Neurology

Question 1

Best Test for Huntington’s dx?

Answer 1

Serum PCR for trinucleotide repeats “CAG” repeats.

Question 2

Dx of Huntingtons

Answer 2

Trinucleotide repeats: >35 in Adults, >50 in kids

Question 3

Where is the huntingtons dz gene located?

Answer 3

Short arm of chrom 4 @ 4p16.3

Question 4

What does a chromosomal karyotype reveal?

Answer 4

macroscopic defects in chromosomes such as deletions, translocations, or trisomies

Question 5

How to dx Wilson’s dz

Answer 5

Low serum ceruloplasmin

Question 6

acute intermittent porphyria dx’d by what?

Answer 6

Urine porphobilinogens and aminolevulinic acid, when detected in urine in excessive amounts.

Question 7

How to dx Creutzfeldt-Jakob dz?

Answer 7

SF assay for 14-3-3 proteinase inhibitor proteins

Question 8

Clinical triad of Wernicke’s encephalopathy?

Answer 8

mental confusion, ophthalmoplegia, and gait ataxia

Question 9

Brain autopsy finding in wernicke’s?

Answer 9

microhemorrhages in the periventricular gray matter, particularly around the aqueduct and third and fourth ventricles

Question 10

What is Lambert-eaton myasthenic syndrome?

Answer 10

paraneoplastic abnormality of presynaptic acetylcholine release

Question 11

What is Lambert-eaton myasthenic syndrome? associated with?

Answer 11

small cell lung carcinoma

Question 12

Clinical hallmark of Lambert-eaton myasthenic syndrome?

Answer 12

generalized weakness with initial improvement in strength after minimal exercise

Question 13

EMG findings in Lambert-eaton myasthenic syndrome?

Answer 13

classical decrement to 3 Hz stimulation in muscles of the hands or feet

Question 14

Clinical findings in MS

Answer 14

numerous different deficits, motor, sensory, or both, that are diffuse in space and time

Question 15

Some Clinical findings in Guillain-Barre $

Answer 15

rapidly occurring demyelinating disease that can present with ascending pain, paralysis, sensory loss, or any combination of these symptoms

Question 16

Clinical hallmark in Guillain-Barre$

Answer 16

loss of deep tendon reflexes in the extremities

Question 17

EMG/nerve conduction studies findings in G-B syndrome

Answer 17

loss of the H reflex and decreased nerve conduction velocities.

Question 18

Describe ALS

Answer 18

Amyotrophic lateral sclerosis: disorder of upper and lower motor neurons aka anterior horn cells

Question 19

Corpus callosum thinning and atrophy are hallmarks of what neurological dz

Answer 19

MS

Question 20

Fronto-temporal atrophy is seen in what neurological dz

Answer 20

pick’s dementia aka fronto-temporal dementia

Question 21

dorsal column pathology is seen in what neuro disorder

Answer 21

VB12 deficiency polyneuropathy with loss of vibration and joint position sensation

Question 22

First line tx for absence seizures

Answer 22

ethosuximide

Question 23

second line tx for absence sz

Answer 23

valproic acid

Question 24

valproic acid efficacy in what times of seizures

Answer 24

partial complex, primary generalized, and absence seizure types

Question 25

phenytoin indicated in what types of seizures?

Answer 25

partial and generalized tonic–clonic seizures, not for absence seizures.

Question 26

Tuberous sclerosis genetics (recessive or dominant)?

Answer 26

autosomal dominant neurocutaneous disorder, prevalence of 1 in 6-9k

Question 27

Classical neurological features of Tuberous sclerosis?

Answer 27

seizures, mental retardation, and behavioral problems

Question 28

Cutaneous lesions of Tuberous sclerosis?

Answer 28

ash leaf spot (hypomelanotic macule), adenoma sebaceum (facial angiofibromas), and shagreen spots (irregularly shaped, often raised or textured skin lesion on the back or flank).

Question 29

Neuropathologic lesions in tuberous sclerosis?

Answer 29

retinal hamartomas, subependymal nodules and cortical hamartomas

Question 30

What is Rett’s disorder

Answer 30

Pervasive developmental disorder only seen in girls. Start seeing signs around 5months - deceleration of head growth