Journal article
The Molecular Pathogenesis of Pelizaeus-Merzbacher Disease
Archives of neurology (Chicago), Vol.56(10), pp.1210-1214
10/01/1999
DOI: 10.1001/archneur.56.10.1210
PMID: 10520936
Abstract
In 1885, Pelizaeus described 5 boys in a single family with nystagmus, spastic quadriparesis, ataxia, and delay in cognitive development. In 1910, Merzbacher reexamined this family, which then included 14 affected individuals, including 2 girls, and found that all affected family members shared a common female ancestor. Also, he noted that the disease was passed exclusively through the female line without male-to-male transmission. Pathological analysis of brain tissue from one affected individual showed that most of the central white matter lacked histochemical staining for myelin, although there were occasional small regions of preserved myelin, giving the sections a "tigroid" appearance. The description of this family provides the clinical, genetic, and pathological basis for Pelizaeus-Merzbacher disease (PMD): an X-linked disorder of myelination classically characterized by nystagmus, spastic quadriparesis, ataxia, and cognitive delay in early childhood.
Details
- Title: Subtitle
- The Molecular Pathogenesis of Pelizaeus-Merzbacher Disease
- Creators
- James GarbernFranca CambiMichael ShyJohn Kamholz
- Resource Type
- Journal article
- Publication Details
- Archives of neurology (Chicago), Vol.56(10), pp.1210-1214
- DOI
- 10.1001/archneur.56.10.1210
- PMID
- 10520936
- NLM abbreviation
- Arch Neurol
- ISSN
- 0003-9942
- eISSN
- 1538-3687
- Publisher
- American Medical Association
- Language
- English
- Date published
- 10/01/1999
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984020738302771
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