An update on the leukodsytrophies

Title

An update on the leukodsytrophies

Creator

Schiffmann R; Boespflug-Tanguy O

Publisher

Current Opinion In Neurology

Date

2001

Subject

Child; Adult; P.H.S.; U.S. Gov't; Brain Diseases; Diagnosis; Differential; Human; Metabolic; Support; Diseases/diagnosis/genetics; Glial Fibrillary Acidic Protein/genetics; Hereditary Central Nervous System Demyelinating; Inborn/diagnosis/genetics; Myelin Proteolipid Protein/genetics

Description

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.
2001

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

789-94

Issue

6

Volume

14

Citation

Schiffmann R; Boespflug-Tanguy O, “An update on the leukodsytrophies,” Pediatric Palliative Care Library, accessed October 19, 2021, https://pedpalascnetlibrary.omeka.net/items/show/11648.

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