Neurology Flashcards
Best Test for Huntington’s dx?
Serum PCR for trinucleotide repeats “CAG” repeats.
Dx of Huntingtons
Trinucleotide repeats: >35 in Adults, >50 in kids
Where is the huntingtons dz gene located?
Short arm of chrom 4 @ 4p16.3
What does a chromosomal karyotype reveal?
macroscopic defects in chromosomes such as deletions, translocations, or trisomies
How to dx Wilson’s dz
Low serum ceruloplasmin
acute intermittent porphyria dx’d by what?
Urine porphobilinogens and aminolevulinic acid, when detected in urine in excessive amounts.
How to dx Creutzfeldt-Jakob dz?
SF assay for 14-3-3 proteinase inhibitor proteins
Clinical triad of Wernicke’s encephalopathy?
mental confusion, ophthalmoplegia, and gait ataxia
Brain autopsy finding in wernicke’s?
microhemorrhages in the periventricular gray matter, particularly around the aqueduct and third and fourth ventricles
What is Lambert-eaton myasthenic syndrome?
paraneoplastic abnormality of presynaptic acetylcholine release
What is Lambert-eaton myasthenic syndrome? associated with?
small cell lung carcinoma
Clinical hallmark of Lambert-eaton myasthenic syndrome?
generalized weakness with initial improvement in strength after minimal exercise
EMG findings in Lambert-eaton myasthenic syndrome?
classical decrement to 3 Hz stimulation in muscles of the hands or feet
Clinical findings in MS
numerous different deficits, motor, sensory, or both, that are diffuse in space and time
Some Clinical findings in Guillain-Barre $
rapidly occurring demyelinating disease that can present with ascending pain, paralysis, sensory loss, or any combination of these symptoms
Clinical hallmark in Guillain-Barre$
loss of deep tendon reflexes in the extremities
EMG/nerve conduction studies findings in G-B syndrome
loss of the H reflex and decreased nerve conduction velocities.
Describe ALS
Amyotrophic lateral sclerosis: disorder of upper and lower motor neurons aka anterior horn cells
Corpus callosum thinning and atrophy are hallmarks of what neurological dz
MS
Fronto-temporal atrophy is seen in what neurological dz
pick’s dementia aka fronto-temporal dementia
dorsal column pathology is seen in what neuro disorder
VB12 deficiency polyneuropathy with loss of vibration and joint position sensation
First line tx for absence seizures
ethosuximide
second line tx for absence sz
valproic acid
valproic acid efficacy in what times of seizures
partial complex, primary generalized, and absence seizure types
phenytoin indicated in what types of seizures?
partial and generalized tonic–clonic seizures, not for absence seizures.
Tuberous sclerosis genetics (recessive or dominant)?
autosomal dominant neurocutaneous disorder, prevalence of 1 in 6-9k
Classical neurological features of Tuberous sclerosis?
seizures, mental retardation, and behavioral problems
Cutaneous lesions of Tuberous sclerosis?
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).
Neuropathologic lesions in tuberous sclerosis?
retinal hamartomas, subependymal nodules and cortical hamartomas
What is Rett’s disorder
Pervasive developmental disorder only seen in girls. Start seeing signs around 5months - deceleration of head growth
