Neurology RITE – Flashcards

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Presenilin 2 (Chromosome)
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Chromosome 1
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Paternal Transmission of Chromosome 15
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Prader-Willi
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Voltage gated Sodium Channel Myotonia of eyelids, face, and hands
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Paramyotonia Congenita
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Motor Regression, cherry red spot, optic atrophy to blindness, severe retardation, seizures Decreased hexosaminidase A Chromosome 5/15
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Tay-Sachs (GM2 Gangliosidosis)
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Recurrent infections with B cell neoplasia Chromosome 11 affected
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Ataxia-Teleangectasia
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Birefringent Ca Oxalate and oxalic acid in urine
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Ethylene Glycol toxicity
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Pseudoperiodic high voltage sharp and slow waves
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EEG findings with CJD
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Reduces the function of B12
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NO Toxicty
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High-voltage polyphasic sharp and slow wave complexes of 0.5 to 2 second duration that recur every 4-15 seconds
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EEG fingins with SSPE
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Mechanism of Tetrodotoxin
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Blocks Sodium Channels
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Malabsorption, peripheral neurolopathy, pigmentary retinopathy Treated with Vitamin E
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Bassen-Kornzweig
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Palatal Neuropathy 10% Develop defuse sensorimotor polyneuropathy 8-12 weeks after infection Increase protein in CSF
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Diptheira
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Dopamine refractory parkinsonism and dystonia, associated with liver disease Globus Pallidus and midbrain increased on T1
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Manganese Intoxication
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Astrocytic Tumor (Chromosome/gene)
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Chromosome 17 P53 gene
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Mechanism of Lathyrus toxicity (alpha-amino-beta-oxalaminoproprionic acid)
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Glutamate Toxicity
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Retinoblastoma (Chromosome/gene)
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Chromosome 13 pRB gene
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Latrotoxin (Source/mechanism)
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Black Widow Venom Releases acetylcholine
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Dopamine Responsive Dystonia (Chromosome)
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Chromosome 14
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Kugelberg-Welander (SMA type/Chromosome)
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SMA Type III Chromosome 5
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Charcot Marie Tooth Disease 1 (Chromosome/gene) Hereditory motor and sensory neuropathy 1 (Chromosome/gene)
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Chromosome 17/PMP-22 Chromosome 1/ P0
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Familial Hemiplegic Migraine (Channel/Chromosome)
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P/Q Calcium Channel Chromosome 19
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Pyramidal signs, peripheral neuropathy Autosomal dominant 6 CAG trinucleotide repeat
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Spinocerebellar Degeneration Type I
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Associated wiht Meningioma, schwanoma, glioma Chromosome 22
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NF 2
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Hemangioblastoma of CNS (cerebellum and retina) Associated with pheochromocytoma and renal cancer
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Von Hipple-Lindau
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"Rod bodies" Static muscle weakness, congenital hypotonia Autosomal dominate when on Chromosome 1 (most common) Autosomal Recessive when on Chromosome 2
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Nemaline Myopathy
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Infantile Onset SMA Type 1 SMN Gene Chromosome 5
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Werdnig-Hoffman
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Progressive external opthalmoplegia pathology
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Mitochondrial Ragged Red Fibers
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Voltage Gated sodium channel Autosomal Dominant on Chromosome 17 Treatement with Carbonic anhydrase inhibitors
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Hyperkalemic periodic paralysis
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Subacute necrotizing encephalopathy, respiratory disturbance, abnormal ocular motility, hypotonia Brainstem and 3rd ventricle lesions Decreased cytochrome C oxidase, mitochondrial dysfunction Autosomal recessive or X
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Leigh's Syndrome
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Phosphofructokinase deficiency Decreased myophosphorylase Chromosome 11 Cramps with exercise, mild weakness Subsarcolemmal Blebs
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McArdle's Disease
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Dihydropyridine receptor mutation (Voltage cated calcium channel) Autosomal Dominant Chromosome 1 Treatment with Potassium and carbonic anyhydrase inhibitors
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Hypokalemic Periodic Paralysis
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"Happy Puppet" Maternal transmission of chromosome 15
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Angelman Syndrome
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Spreading limpness on stiffness, hand myokymia, continuous motor unit activity on EMG Potassium channel gene Chromosome 12 Treatment with Acetazolamide or Phenytoin
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Episodic ataxia - 1
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Delayed motor development, involuntary movements, compulsive self mutilation Decreased hypoxantine guanine phosphorribosyltransferase Increased uric acid Chromosome X
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Lesch-Nyhan
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Ataxia, retinitis pegmentosa, icthyosis Decreased phantic acid oxidase
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Refsum's Disease
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Ataxia, spasticity, optic atrophy, dementia, decreased MSR Lysosomal enzyme disorder Decreased aylsulftase A Chromosome 10
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Metachromatic Leukodystrophy
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Muscle stiffness (painless and worsened by cold) and hypertrophy Chloride channel Chromosome 7 Treatement with mexiletine, phenytoin, carbamazepine
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Myotonia congenita
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Peripheral involvement Van Recklinghausen Chromosome 17
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NF 1
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A form of spinocerebellar ataxia 6 Chromosome 19 half have migraines P/Q Calcium channel Treatment with acetazolamide
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Episodic Ataxia - 2
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Lyposomal enzyme disorder Decreased galactosylceramide beta galactosidase Chromosome 14 Onset at 3 to 6 months Progressive increased tone, decreased MSR, startle myoclonus, seizures, blindness, and slow development
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Krabbe's Leukodystrophy
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Acute infantile form Cherry red macula, hepatosplenomegaly, mental deterioration (psychomotor regression), postural hypotonia Decreased sphingomyelinase Vacuolated lymphocytes
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Niemann-Pick Type A
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Myotonia, facial and distal weakness, multiple endocrinopathies, temporal, masseter, and SCM wasting, distrubed GI motility 19 CTG trinucleotide repeat
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Myotonic Dystrophy
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Eponyms for Neuronal Ceroid Lipofuscinosis
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Santavuori-Haltia - 6-12 months on Chromosome 1 Jansky-Bielschowksy - 2-3 years on Chromosome 11 Batten or Speilmeyer-Vogt - 4-12 years on Chromosome 16
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Ataxia, dysarthia, decrease MSR, + babinski, decreased vibration sense, hypertrophic cardiomyopathy Frataxin 9 GAA trinucleotide repeat
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Friedreich's Ataxia
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Progressive dementia, hypotonia, ataxia, seizures (myclonus) Abnormal VEP and later blindness Lipofuscin strored in neurons
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Neuronal ceroid lipofuscinosis
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Dystonia, athetosis, rigidity, LMN signs and ataxia 14 CAG trinucleotide repeat
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Spinocerebellar Atrophy Type 3 (Machado-Joseph)
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Tuberous Sclerosis (Chromosome/Product)
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Chromosome 9, 16 Hemartin
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Narcolepsy (Chromosome)
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Chromosome 6
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Early onset primary dystonia DYT1 (Chromosome)
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Chromosome 9
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Amyloid Precursor Protein (Chromosome)
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Chromosome 21
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Apoplipoprotein E (Chromosome)
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Chromosome 19
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Alzheimer's - Late, familial (Chromosome)
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Chromosome 19
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Alzheimer's - Early, familial (Chromosome)
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Chromosome 14, 21
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Spastic Paraplegia (Chromosome)
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Chromosome X
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William's Syndrome (Chromosome)
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Chromosome 7
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Frontotemporal Dementia (Chromosome)
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Chromosome 17
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Wilson's Disease (Chromosome)
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Chromosome 13
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Acute Intermittent Porphyria (Chromosome)
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Chromosome 11
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CJD - Familial Gerstman-Schenker-Strauss (Chromosome)
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Chromosome 20
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Familial ALS (Chromosome)
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Chromosome 21
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medial medullary syndrome
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ipsilateral CNXII paralysis (fascicle of CNXII), contralateral hemiparesis (pyramid), and contralateral loss of position and vibratory sensation (medial lemniscus) anterior spinal artery distribution
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orbital apex components
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ophthalmic artery, ciliary ganglion and nerves, the fascicles of cranial nerves III, IV, VI, and the ophthalmic branch of cranial nerve V
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Damage to the fornix cause what S/Ss
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Papez circuit and results in loss of the ability to form new memories
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thalamus is supplied mainly 3A
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posterior cerebral, posterior communicating, and posterior choroidal
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name muscles trigeminal nerve supplies --the muscles of mastication
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temporalis, masseter, medial and lateral pterygoids, mylohyoid, anterior belly of the digastric, tensor veli palatini, and tensor tympani muscle
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suprachiasmatic nucleus of the hypothalamus
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dominant circadian pacemaker of the mammalian brain.
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anterior nucleus of the thalamus project to?
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Fibers from the anterior nucleus of the thalamus project to the cingulate gyrus. The anterior nucleus receives projections from the mamillary bodies
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Neural crest derivatives
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dorsal root ganglia (involved in transmission of pain) and sympathetic ganglia Schwann cells and melanocytes
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insular cortex in put
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receives visceral nociceptive input via the ventromedial posterior (VMP) thalamic nucleus
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The layers traversed during a lumbar puncture
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skin, subcutaneous fat, supraspinous ligament, intraspinous ligament, ligamentum flavum, epidural fat, subarachnoid space
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central cord lesion, most suggestive feature
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upper extremities greater than lower, Pro more affect than Dis decreased pinprick sensation with retained fine touch spare vibration and light touch
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Opioid intoxication, pupil?
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constrict
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Transient global amnesia
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temporary but almost total disruption of short-term memory with a range of problems accessing older memories
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Williams syndrome
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deletions on chromosome 7 excellent social and language skills Marked impairment is noted on tests of visual processing cardiac, hyperacusis, endocrine disorders, and hypercalcemia
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Klüver-Bucy syndrome
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bilateral temporal lesions involving amygdalae
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Define concussion
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Concussion is recognized as a clinical syndrome of biomechanically induced alteration of brain function, typically affecting memory and orientation, which may involve loss of consciousness (LOC).
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List 3 Diffuse astrocytomas ,WHO 2007
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WHO 2007 Diffuse astrocytomas 1, Low grade astrocytoma;(grade II) 2, anaplastic astrocytoma(III); 3, Glioblastoma (IV): mitotic figures prominent, vanscular proliferation and/or necrosis
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Pathological feature of low grade astrocytoma
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nuclear pleomorphism, mitotic figures rare
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Pathological feature anaplastic astrocytoma (grade III
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nuclear pleomorhism, mitotic figures prominent, NO vascular proliferation or necrosis
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Pathological feature Glioblastoma (IV)
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mitotic figures prominent, vanscular proliferation and/or necrosis
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Loss of Heterozygosity (LOH)
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occurs when a somatic cell contains only one copy of an allele due to non-disjunction during mitosis, segregation during recombination, or deletion of a chromosome segmen
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Primary gliobalstoma
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1,Glioblastoma arise de novo, without progression from lower grade glioma 2, IDH 1 mutation is rare 3, Loss of Heterozygosity 10q, EGFR amplification, p16 deletin and PTEN mutation
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Secondary glioblastoma
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1,Arise from lower grade glioma 2, Sequential acuisition of new mutation 3, IDH1 and P53 common 4, Temozolamide lead to hypermutation RB and Akt-mTOR pathway
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Diffuse gliomas favorable genetic signatures
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1p/19q co-deletion IDH mutation
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IDH mutation presents in what types of CNS tumors
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IDH1(R132H) prsent in 75% of grade II and III glioma Not present in primary glioblastomas Very rare in other types of primary CNS tumor
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prion disorders
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14-3-3 protein
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serotonin syndrome
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results from concomitant administration of medications that enhance serotonin transmission via decreased breakdown, or increased production
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clinical triad of abnormalities of serotonin syndrome
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Cognitive effects: headache, agitation, hypomania, mental confusion, hallucinations, coma Autonomic effects: shivering, sweating, hyperthermia, vasoconstriction, tachycardia, nausea, diarrhea. Somatic effects: myoclonus (muscle twitching), hyperreflexia (manifested by clonus), tremor.
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serotonin syndrome differentiated from neuroleptic malignant syndrome clinically
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serotonin syndrome has shiveringa and myoclonus
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serotonin syndrome how fast occur with medication changes
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within 6 to 8 hours of initiating or increasing serotonergic medications
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ideational apraxia
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the patient cannot correctly pantomime a multistep command
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ideomotor apraxia
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, in which the patient cannot perform on command simple actions such as waving good-bye or using a hammer
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Bromocriptine
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dopamine receptor agonist, which activates postsynaptic dopamine receptors. treatment of choice for neuroleptic malignant syndrome,
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Forced normalization
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psychosis occurring after achievement of good clinical seizure control, or resolution of interictal epileptiform discharges
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sarcoidosis CNS manifestatins
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motor and sensory deficits, progressive visual loss, and cranial nerve palsies. hypothalamus and basal forebrain resulting in hypopituitarism, hyperphagia, and hypersomnolence
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West Nile virus (WNV) encepahlitis
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older patients mental status change movement disorder flaccid paralytic syndrome
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Rabie virus
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temporal and limbic lobes-memory loss and personality changes, seizure and death
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medial dorsal nucleus of the thalamus connections (AOL)
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amygdala, orbitofrontal region, and the temporal lobe ---disinhibition, utilization behavior, mania, and memory loss
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why need check glucose before tPA
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Hypoglycemia can present with signs of focal neurologic dysfunction and mimic stroke.
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fourth nerve palsy, head posiion
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(1) head tilt to opposite shoulder, (2) head turn downward with chin depressed and eyes upward, and (3) face turn to opposite side
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Acute dystonic reactions
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Anticholinergic medication, including diphenhydramine, is the most appropriate treatment
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copper deficiency
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subacute syndrome of pyramidal tract and dorsal column impairment afterr gastric surgery, or after zinc overdose Alpha-tocopherol transfer protein gene mutation would present typically in childhood with gradual onset
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REM sleep behavior disorder (RBD assoicated with pathology
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synucleinopathies
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which virus can cause a necrotizing myelopathy
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Varicella zoster virus
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Oral hormone contraception and lamotrigine
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(OHC) induces this system and may result in a significant lowering of serum LTG levels. LTG has no effect on OHC metabolism and does not increase the risk of OHC failure.
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Schilder's disease
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a very rare, progressive, degenerative, demyelinating disorder of the central nervous system (CNS) that usually begins in childhood and young adulthood (mostly males between the ages of 7 and 12) larger and larger patches of demyelination
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Marburg Disease
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the fulminant form of multiple sclerosis, is a rare disease that typically kills within a year.
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Charcot-Marie-Tooth disease (CMT) 3 common types
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classic phenotype ;walking on time, and develop weakness or sensory loss during the first two decades CMT1A and men with CMT1X infantile-onset,do not begin walking until they are at least 15 months of age, req assistant of ambulation by 20yrs, CMT1B or CMT1E adult-onset, approximately 40 years of age, largely CMT1B, CMT1X
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Superior semicircular canal dehiscence
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perilymphatic fistula and is characterized by sound, pressure induced vertigo, and oscillopsia.
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Ménière disease,
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due to endolymphatic hydrops
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Mollaret meningitis
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recurrent, self-limiting, aseptic meningitis caused by the herpes simplex virus 2 and may benefit from treatment with acyclovir
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level of evidence from AAN
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class A, established, need 2 class I studies Class B, probable, need 1 class I and 2 class II studies class C, possible, need 1 Class II and 2 Class II studies Class U, inadequated, unapproved
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Metronidazole neuro- toxicity
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sensorimotor polyneuropathy affecting both large and small fibers recovery, 6 to 12 months
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neurogenic claudication
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due to chronic compression of the lumbosacral nerve roots of the cauda equina, within the thecal sac, due to lumbosacral central spinal stenosis resembles vascular claudication. pain is classically relieved by a change in position or flexion of the waist and not simply relieved by rest
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Down syndrome, neuro
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Down syndrome can be associated with atlantoaxial instability
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what neuropathy unique to Sjögren syndrome
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Dorsal root ganglion involvement leading to an ataxic sensory neuronopathy
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what neuropathy is a common neurologic feature of connective tissue diseases
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Trigeminal sensory neuropathy
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on bevacizumab, developed hypertension, a seizure, and cortical blindness.
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reversible posterior leukoencephalopathy
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Allelic loss (loss of heterozygosity) of chromosomes 1p and 19q are molecular signatures of which tumor
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grade III (anaplastic) oligodendrogliomas. increased responsiveness to chemotherapy and increased length of survival compared to grade III astrocytomas and grade IV gliomas
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trigeminal neuralgia (tic douloureux) DD
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vascular loop structural causes such as a meningioma, cerebellopontine angle neoplasm, and aneurysm. Multiple sclerosis stroke
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A late posttraumatic seizure
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defined as a seizure that occurs more than 1 week after a head injury
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progressive supranuclear palsy
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tauopathy, early falls, bradykinesia, and marked axial rigidity Supranuclear gaze palsy occurs with initial impairment of down gaze
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MRI characteristic of Creutzfeldt-Jakob disease (CJD)
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restricted diffusion in the cortical mantle and basal ganglia CSF-neuron-specific enolase and 14-3-3 protein
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FDA advises of MS pregancy
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The FDA advises discontinuation of disease-modifying agents, starting about 1 cycle prior to conception, under the justification of "do no harm". RRMS has not been associated with an increased risk of birth defects or pregnancy related complications. There is no known contraindication to corticosteroids during pregnancy.
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typically presention of cerebral amyloid angiopathy
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elderly persons with spontaneous lobar hemorrhage
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cerebral autosomal dominant arteriopathy, with subcortical infarcts and leukoencephalopathy (CADASIL)
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NOTCH3 gene on chromosome 19.
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heaadache and breast feeding
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amount of most medications excreted in breast milk is 1% to 2% of the maternal dose Aspirin is considered less safe than acetaminophen Triptans and tricyclic antidepressants are of unknown risk to the infant, while narcotics are safe.
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RLS is characterized by..
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1) an urge to move the legs, usually accompanied by uncomfortable or unpleasant leg sensations, 2) symptoms beginning or worsening during rest or inactivity, 3) symptoms occur only, or are worse, in the evening or night compared to the day, 4) symptoms are partially or totally relieved by movement or stretching for at least as long as the activity continues, and 5) symptoms are not solely accounted for as being primary to another condition, such as leg cramps
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POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes)
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serum vascular endothelial growth factor (VEGF) is one of the major diagnostic criteria supporting a diagnosis of POEMS
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Charles Bonnet syndrome
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complex visual hallucinations in the setting of significant visual deprivation
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Paroxysmal hemicrania Tx
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exquisitely sensitive to indomethacin
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described premotor features of idiopathic Parkinson disease
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Anosmia, REM sleep behavior disorder, constipation and depression
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Balint syndrome
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simultagnosia, oculomotor apraxia and optic ataxia
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the North American Antiepileptic Drug (AED) Pregnancy Registry findings
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lamotrigine is associated with the lowest risk of major congenital malformations during exposure in the first trimester compared to other the AEDs given. The approximate relative risks of the other AEDs listed compared to lamotrigine were 1.2 for levetiracetam; 1.5 for carbamazepine; 1.5 for phenytoin; 2.2 for topiramate; and 5.1 for valproic acid.
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acute onset of epidural spinal cord compression Tx
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surgery within 24 hours had significant improvement in their ability to walk and the length of time that they were able to continue to walk.
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Nitrous oxide toxicity
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cause a progressive myelopathy of the posterior and lateral columns that mimics that of vitamin B12 deficiency. Nitrous oxide irreversibly oxidizes the cobalt moiety of methylcobalamin and interferes with conversion of homocysteine to methionine
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Natalizumab-induced PML
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discontinuation of natalizumab and initiation of plasma exchange IRIS (immune reconstitution inflammatory syndrome) treatment for IRIS is high-dose glucocorticoids followed by a slow taper
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Cerebrovascular disease occurs in ??% of sickle cell disease
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25% of sickle cell disease Eighty percent of events occur at or before age 15 chronic transfusion therapy to keep hemoglobin S below 30%
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Hallmarks of Friedreich ataxia
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weakness, ataxia, absent tendon jerks, Babinski sign, and abnormal position sense. Romberg sign is the best indication of loss of position sense. Hammer toes, pes cavus deformities, and scoliosis are frequent findings.
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atlantoaxial instability
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Down syndrome Klippel-Feil ( abnormal fusion), Morquio (mucopolysaccharidosis IV), Larsen syndromes, achondroplasia previous cervical spinal surgery
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exposed to valproic acid in utero
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valproic acid in utero had significantly lower IQ scores than children of the same age who had in utero exposure to to carbamazepine, lamotrigine, and phenytoin
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Lesch-Nyhan syndrome
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dystonia typically prior to 12 months self-injurious behavior, between 2 and 4 years of age hypoxanthine-guanine phosphoribosyltransferase
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Bartonella henselae (catscratch disease) signs on O/E
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enlarged lymph node in the arm axilla or neck
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Niemann-Pick disease type C
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autosomal recessive inheritance hepatosplenomegaly, progressive neurodegeneration; vertical supranuclear (usually downgaze) palsy, ataxia, dystonia, seizures, gelastic cataplexy, and dementia
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Metachromatic leukodystrophy
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autosomal recessive disorder periventricular and deep white matter with relative sparing of the U-fibers (long tract signs alone are common Neurocognitive symptoms can be the presenting
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Pelizaeus- Merzbacher Diseasem MRI
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white matter in the centrum semi-ovale is isodense with the cortical ribbon on T1- weighted imaging
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l-asparaginase
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cause significant hypercoagulability, particularly secondary anti-thrombin III deficiency, which this patient had. Venous sinus thromboses, with infarctions in a venous distribution, are the result.
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Joubert syndrome
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hypoplasia of the cerebellar vermis most common features of this syndrome include hyperpnea, hypotonia, oculomotor apraxia, ataxia, and mental retardation
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molar tooth sign
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thickening and horizontalization of the superior cerebellar peduncle and a deep interpeduncular fossa, Joubert syndrome Dekaban-Arima syndrome, Senior-Loken syndrome, COACH (cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis).
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subdural hemorrhages in the absence of inflicted trauma in infants
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Menkes disease, type 1 osteogenesis imperfecta, and glutaric aciduria type 1
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bacterial meningitis long term complication
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hearing loss found in as many as 15% to 30% of cases in various series, permanent motor deficits or learning disabilities are found in in 5% to 15%; epilepsy or hydrocephalus in less than 5% of cases.
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Mutations of filamin A linked to ??
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bilateral periventricular heterotopias, enlarged cistern magna thinning or agenesis of the corpus callosum. aortic aneurysm
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diagnosis of spasmus nutans
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dysconjugate, highly variable nystagmus, head nodding head tilt, without ophthalmologic abnormalities, and with normal neuroimaging
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Congenital nystagmus
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conjugate and suppressed by convergence (in contrast to spasmus nutans,which is typically increased by convergence)
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Opsoclonus
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chaotic, conjugate saccades, seen classically in the paraneoplastic syndrome associated with neuroblastoma.
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evidence of treatment of Bell palsy
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There is Class 1 evidence supporting treatment with steroids to improve recovery. There is weak evidence for antiviral treatment. There is no benefit to combination therapy
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sensitivity
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number of true positives over true positives plus false negatives
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Specificity
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is the number of true negatives over true negatives plus false positives
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Myoclonic epilepsy with ragged red fibres.
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mitochondrial DNA (mtDNA) gene MT-TK encoding tRNA lysine (tRNALys) is the gene most commonly associated with MERRF (found in 80% of patients).
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Neurogenic pattern
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Denervation atrophy with small angulated fibers - grouped atrophy Fiber-type grouping if there is reinnervation (loss of the checker pattern) Acute denervation causes small angulated fibers and groups of atrophied fibers target cell-denervation
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Myopathic pattern
Myopathic pattern
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Necrosis, myophagocytosis Fiber splitting, Fiber size variation (hypertrophy and splitting) Central nuclei, Basophilia (degeneration), Non-grouped atrophy Fibrosis / lipid deposition
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Retinitis Pigmentosa
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NARP, MNGIE, Refsum's, Abetalipoproteinemia, KS
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Tay-Sach
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Hexosamindase A
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Sandhoff
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Hexosamindase A & B
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Fragile X Premutation Syndrome MRI
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MRI show hyperintensity in middle cerebellar peduncles
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Fragile X Premutation Syndrome
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50(55)-200: Premuation FX tremor/ataxia syndrome (FXTAS)
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Maple Syrup Urine Disease MRI
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characteristic edema affecting deep cerebellar WM, dorsal brainstem, cerebral peduncles and internal capsule
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Maple Syrup Urine Disease-Tiral of thiamine
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- there is a thiamine responsive variant
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Anticipation
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Expanded repeats usually enlarge when passed to successive generations, producing more severe disease at earlier age of onset
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imprinted genes
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imprinted genes are only active from one parental allele
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Harding's Essential Diagnostic Criteria for Friedreich Ataxia
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When symptoms have been present for less than 5 years: (1) Onset of symptoms before 25 years of age (2) Progressive ataxia of all limbs and gait (3) Absent knee and ankle tendon reflexes (4) Babinski response present (5) Motor nerve conduction velocity greater than 40 m per second in the upper extremity with small or absent sensory responses
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DNA repair defect
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• Ataxia telangiectasia • Ataxia with oculomotor apraxia 1 (AOA 1) • Ataxia with oculomotor apraxia 2 ( AOA 2) • Ataxia-telangiectasia -like disorder (ATLD) • Spinocerebellar ataxia with axonal neuropathy (SCAN 1) • Xeroderma pigementosum (XP)
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Ataxia with vitamin E deficiency
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Treatment: Vitamin E supplementation
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Refsum's disease
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Dietary reduction of phytanic acid
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Cerebrotendinous xanthomatosis
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Cholic acid and chenodeoxycholic acid: compensate for the deficient bile acids in the intrahepatic pool and decrease cholestanol synthesis and levels o Simvastatin or lovastatin: decrease cholesterol synthesis and cholesterol levels
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Episodic ataxia type 1 & 2
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Acetazolamide (500-700 mg daily) often completely eliminates the attacks (better and more predictable response in type 2 than type 1)
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Abetalipoproteinemia
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Restriction of dietary fat and supplementation of vitamins ADEK (often massive doses)
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Wilson Disease
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D-penicillamine
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FRAXA
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X-linked FMR1, on the X-chromosome CGG
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FXTAS (Fragile Xassociated tremor/ ataxia syndrome)
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X-linked FMR1, on the X-chromosome CGG
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FRAXE (Fragile XE mental retardation)
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X-linked AFF2 or FMR2, on the X-chromosome GCC
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FRDA (Friedreich's ataxia)
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AR FXN or X25, (frataxin) GAA
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DM (Myotonic dystrophy)
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AD, DMPK CTG
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SCA8 (Spinocerebellar ataxia Type 8)
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AD OSCA or SCA8 CTG
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SCA12 (Spinocerebellar ataxia Type 12)
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AD PPP2R2B or SCA12 CAG
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Metachromatic LD
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arylsulfatase A
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Fabry
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-galactosidase A
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Tangiers
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-lipoproteinemia (ABC transporter deficiency) (ABCA1 Gene)
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Gaucher
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β-glucocerebrosidase
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Niemann-Pick
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Sphingomyelin phosphodiesterase 1
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Canavan
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Aspartoacylase - U fiber involvement
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Alexander
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GFAP (frontotemporal)
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Adrenoleukodystrophy
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ABCD1 (VLCFA accumulation, posterior)
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Pelizaeus-Merzbacher
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Proteolipid protein 1 (PLP1)
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Vanishing White Matter
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eIF2B5
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