question

Presenilin 2 (Chromosome)

answer

Chromosome 1

question

Paternal Transmission of Chromosome 15

answer

Prader-Willi

question

Voltage gated Sodium Channel Myotonia of eyelids, face, and hands

answer

Paramyotonia Congenita

question

Motor Regression, cherry red spot, optic atrophy to blindness, severe retardation, seizures Decreased hexosaminidase A Chromosome 5/15

answer

Tay-Sachs (GM2 Gangliosidosis)

question

Recurrent infections with B cell neoplasia Chromosome 11 affected

answer

Ataxia-Teleangectasia

question

Birefringent Ca Oxalate and oxalic acid in urine

answer

Ethylene Glycol toxicity

question

Pseudoperiodic high voltage sharp and slow waves

answer

EEG findings with CJD

question

Reduces the function of B12

answer

NO Toxicty

question

High-voltage polyphasic sharp and slow wave complexes of 0.5 to 2 second duration that recur every 4-15 seconds

answer

EEG fingins with SSPE

question

Mechanism of Tetrodotoxin

answer

Blocks Sodium Channels

question

Malabsorption, peripheral neurolopathy, pigmentary retinopathy Treated with Vitamin E

answer

Bassen-Kornzweig

question

Palatal Neuropathy 10% Develop defuse sensorimotor polyneuropathy 8-12 weeks after infection Increase protein in CSF

answer

Diptheira

question

Dopamine refractory parkinsonism and dystonia, associated with liver disease Globus Pallidus and midbrain increased on T1

answer

Manganese Intoxication

question

Astrocytic Tumor (Chromosome/gene)

answer

Chromosome 17 P53 gene

question

Mechanism of Lathyrus toxicity (alpha-amino-beta-oxalaminoproprionic acid)

answer

Glutamate Toxicity

question

Retinoblastoma (Chromosome/gene)

answer

Chromosome 13 pRB gene

question

Latrotoxin (Source/mechanism)

answer

Black Widow Venom Releases acetylcholine

question

Dopamine Responsive Dystonia (Chromosome)

answer

Chromosome 14

question

Kugelberg-Welander (SMA type/Chromosome)

answer

SMA Type III Chromosome 5

question

Charcot Marie Tooth Disease 1 (Chromosome/gene) Hereditory motor and sensory neuropathy 1 (Chromosome/gene)

answer

Chromosome 17/PMP-22 Chromosome 1/ P0

question

Familial Hemiplegic Migraine (Channel/Chromosome)

answer

P/Q Calcium Channel Chromosome 19

question

Pyramidal signs, peripheral neuropathy Autosomal dominant 6 CAG trinucleotide repeat

answer

Spinocerebellar Degeneration Type I

question

Associated wiht Meningioma, schwanoma, glioma Chromosome 22

answer

NF 2

question

Hemangioblastoma of CNS (cerebellum and retina) Associated with pheochromocytoma and renal cancer

answer

Von Hipple-Lindau

question

"Rod bodies" Static muscle weakness, congenital hypotonia Autosomal dominate when on Chromosome 1 (most common) Autosomal Recessive when on Chromosome 2

answer

Nemaline Myopathy

question

Infantile Onset SMA Type 1 SMN Gene Chromosome 5

answer

Werdnig-Hoffman

question

Progressive external opthalmoplegia pathology

answer

Mitochondrial Ragged Red Fibers

question

Voltage Gated sodium channel Autosomal Dominant on Chromosome 17 Treatement with Carbonic anhydrase inhibitors

answer

Hyperkalemic periodic paralysis

question

Subacute necrotizing encephalopathy, respiratory disturbance, abnormal ocular motility, hypotonia Brainstem and 3rd ventricle lesions Decreased cytochrome C oxidase, mitochondrial dysfunction Autosomal recessive or X

answer

Leigh's Syndrome

question

Phosphofructokinase deficiency Decreased myophosphorylase Chromosome 11 Cramps with exercise, mild weakness Subsarcolemmal Blebs

answer

McArdle's Disease

question

Dihydropyridine receptor mutation (Voltage cated calcium channel) Autosomal Dominant Chromosome 1 Treatment with Potassium and carbonic anyhydrase inhibitors

answer

Hypokalemic Periodic Paralysis

question

"Happy Puppet" Maternal transmission of chromosome 15

answer

Angelman Syndrome

question

Spreading limpness on stiffness, hand myokymia, continuous motor unit activity on EMG Potassium channel gene Chromosome 12 Treatment with Acetazolamide or Phenytoin

answer

Episodic ataxia - 1

question

Delayed motor development, involuntary movements, compulsive self mutilation Decreased hypoxantine guanine phosphorribosyltransferase Increased uric acid Chromosome X

answer

Lesch-Nyhan

question

Ataxia, retinitis pegmentosa, icthyosis Decreased phantic acid oxidase

answer

Refsum's Disease

question

Ataxia, spasticity, optic atrophy, dementia, decreased MSR Lysosomal enzyme disorder Decreased aylsulftase A Chromosome 10

answer

Metachromatic Leukodystrophy

question

Muscle stiffness (painless and worsened by cold) and hypertrophy Chloride channel Chromosome 7 Treatement with mexiletine, phenytoin, carbamazepine

answer

Myotonia congenita

question

Peripheral involvement Van Recklinghausen Chromosome 17

answer

NF 1

question

A form of spinocerebellar ataxia 6 Chromosome 19 half have migraines P/Q Calcium channel Treatment with acetazolamide

answer

Episodic Ataxia - 2

question

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

answer

Krabbe's Leukodystrophy

question

Acute infantile form Cherry red macula, hepatosplenomegaly, mental deterioration (psychomotor regression), postural hypotonia Decreased sphingomyelinase Vacuolated lymphocytes

answer

Niemann-Pick Type A

question

Myotonia, facial and distal weakness, multiple endocrinopathies, temporal, masseter, and SCM wasting, distrubed GI motility 19 CTG trinucleotide repeat

answer

Myotonic Dystrophy

question

Eponyms for Neuronal Ceroid Lipofuscinosis

answer

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

question

Ataxia, dysarthia, decrease MSR, + babinski, decreased vibration sense, hypertrophic cardiomyopathy Frataxin 9 GAA trinucleotide repeat

answer

Friedreich's Ataxia

question

Progressive dementia, hypotonia, ataxia, seizures (myclonus) Abnormal VEP and later blindness Lipofuscin strored in neurons

answer

Neuronal ceroid lipofuscinosis

question

Dystonia, athetosis, rigidity, LMN signs and ataxia 14 CAG trinucleotide repeat

answer

Spinocerebellar Atrophy Type 3 (Machado-Joseph)

question

Tuberous Sclerosis (Chromosome/Product)

answer

Chromosome 9, 16 Hemartin

question

Narcolepsy (Chromosome)

answer

Chromosome 6

question

Early onset primary dystonia DYT1 (Chromosome)

answer

Chromosome 9

question

Amyloid Precursor Protein (Chromosome)

answer

Chromosome 21

question

Apoplipoprotein E (Chromosome)

answer

Chromosome 19

question

Alzheimer's - Late, familial (Chromosome)

answer

Chromosome 19

question

Alzheimer's - Early, familial (Chromosome)

answer

Chromosome 14, 21

question

Spastic Paraplegia (Chromosome)

answer

Chromosome X

question

William's Syndrome (Chromosome)

answer

Chromosome 7

question

Frontotemporal Dementia (Chromosome)

answer

Chromosome 17

question

Wilson's Disease (Chromosome)

answer

Chromosome 13

question

Acute Intermittent Porphyria (Chromosome)

answer

Chromosome 11

question

CJD - Familial Gerstman-Schenker-Strauss (Chromosome)

answer

Chromosome 20

question

Familial ALS (Chromosome)

answer

Chromosome 21

Neurology RITE – Dr. Hart’s FC – Flashcards

Unlock all answers in this set

Haven't found what you were looking for?

Search for samples, answers to your questions and flashcards