Neuro Board (from app)

Question 1

MERFF- sx, key findings?

Answer 1

can cause ragged-red fibers but patients will have myoclonic epilepsy, ataxia, and dementia.

MERFF: Myoclonic, Epilepsy, Ragged/Red, Falling (ataxia), Forgetting

Question 2

MELAS

Answer 2

pts have stroke-like episodes.

Myoclonic Epilepsy Lactic Acidosis and Strokes (also w/ ragged red fibers)

Question 3

Kearns-Sayre ophthalmoplegia

Answer 3

HIGH YIELD FOR THE BOARDS: a sporadic condition that causes progressive external ophthalmoplegia, pigmentary retinopathy, ragged red fibers. A key lab finding is elevated CSF protein. Also heart block.

Question 4

Synthesis of GABA:

• from?
• enzyme?
• cofactor?

Answer 4

• Glutamate is converted to GABA
• by glutamate decarboxylase
• uses vitamin B6 (pyridoxine) as cofactor

Question 5

Findings in arsenic poisoning?

Answer 5

White lines across nails are known as “Mees lines” and are classic in arsenic poisoning. Chronic exposure may cause sensorimotor polyneuropathy, hyperkeratosis, anorexia, weight loss, metallic taste, and diarrhea/constipation.

Question 6

Friedrichs ataxia

• pathways
• hallmarks
• pathogenesis

Answer 6

Friedreich’s ataxia almost always shows up on the RITE and the boards.

The key hallmark is involvement of spinocerebellar, corticospinal tracts, and dorsal columns (frie = 3)

Findings of DIABETES, and PERIPHERAL NEUROPATHY.

It is due to an unstable expansion of the GAA triplet on chromosome 9 and deficiency in the protein frataxin.

Question 7

HY Metal Toxic Sx:
1) Painful neuropathy

2) alopecia
3) brachial plexopathy
4) wrist drop
5) constrictions of visual fields.

Answer 7

1) arsenic
2) thallium
3) gold
4) lead
5) Mercury

These are KEY FINDINGS ASSOCIATED WITH THESE METALS. HIGH YIELD!!!

Question 8

Werding-Hoffman syndrome, or spinal muscular atrophy (SMA) type-I, can affect infants (usually before 6 months of age) and presents with flaccid weakness or “floppy baby”.

Answer 8

SMA type 1

Question 9

Inability to recognize faces, due to lesion where?

Answer 9

This is known as prosopagnosia, when a patient can not recognize others by their face. It is usually a result of a lesion in the bilateral inferior occipitotemporal cortex (THE FUSIFORM GYRUS)

Question 10

What protein accumulates in progressive supranuclear palsy?

Answer 10

The tauopathies are (CAPP): Corticobasal degeneration, Alzheimer’s, PSP, and Pick’s disease/frontotemporal dementia linked to chromosome 17).

Do you remember the alpha-synucleinopathies? They are (PML): Parkinson’s, Multi system atrophy, and Lewy body dementia.

Question 11

Inherited form of Alzheimer’s disease, localizes to chromosome 1- mutation in which protein?

Answer 11

VERY HIGH YIELD 
chromosome 1: Presenilin-2
chromosome 14q24.3: Presenilin-1
chromosome 19q: Apolipoprotein E4
chromosome 21q11-22: amyloid precursor protein