An update on the leukodsytrophies.

Abstract:

:This review centers on important recent advances in the understanding of the role of glial fibrillary acidic protein in Alexander disease and of proteolipid protein in hypomyelinating disorders such as Pelizaeus-Merzbacher and spastic paraplegia. We also describe seven novel leukodystrophies. These include childhood ataxia with central nervous system hypomyelination, a relatively common leukodystrophy syndrome with linkage to chromosome 3 in some patients, and megalencephalic leukoencephalopathy with subcortical cysts whose gene has recently been cloned. These, along with five other disorders, including leukodystrophy with polyol metabolism abnormality, demonstrate that an increasing number of protein and metabolic abnormalities can cause primary myelin disorders.

journal_name

Curr Opin Neurol

authors

Schiffmann R,Boespflüg-Tanguy O

doi

10.1097/00019052-200112000-00018

subject

Has Abstract

pub_date

2001-12-01 00:00:00

pages

789-94

issue

6

eissn

1350-7540

issn

1473-6551

journal_volume

14

pub_type

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