Week 2 Myelin Lecture

Question 1

**Globoid Cell Leukodystrophy (GCL)

AKA Krabbes disease

Answer 1

lysosomal storage disease caused by deficiency in beta-galactosidase ir galactosylceramidase

inherited with AR trair

Question 2

**Adrenoleukodystrophy

Classic ALD or X linked ALD

ADD PIC

Answer 2

ALD is caused by mutations in ABCD1, a gene located on the X chromosome that codes for ALD protein, which transports VLCFAs into the peroxisome for beta oxidation

VLCFAs (as cholesteryl esters) accumulate in many organs esp brain WM, testes, and adrenal cortex

there is severe demyelination and inflammation. diffuse myelin loss, lipid-laden macrophages and perivascular lymphocytic infiltrates

Onset 6-10 years with rapid deterioration. Visual loss, ataxia, spacicity, and adrenal insufficiency. There is not effective treatment to prevent demyelination. Administration of Lorenzos oil and MCT have only minor effects

Adrenomyeloneuropathy is a milder clinical cariant of ALD charicterized by adrenal insufficiency and progressive muscle weakness. It also has a later onset

Question 3

Adrenomyeloneuropathy

Answer 3

a milder clinical cariant of ALD charicterized by adrenal insufficiency and progressive muscle weakness. It also has a later onset

Question 4

****Pelizaeus Merzbacher Disease (PMD)

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Answer 4

Progressive and degenerative CNS disorder characterized by a rapid decline in coordination, motor ability, and intellectual fn

Caused by mutation in the PLP gene on the X chromosome

Severity and onset of disease ranges widely depending on the type of PLP mutation
-several point mutations

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Question 5

**Charcot Marie Tooth Disease

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Answer 5

Hereditary motor and sensory neuropathy

only affects PNS

One of the nmost common inherited neuro disorders affecting approx 1/2500 ppl in US

Many Variants

• CTM-1A is and AD disease caused by duplication of PMP22 gene on chrom 17
• CMT-1B is and AD disorder caused by point mutations on P0 gene on chromosome 1