Journal article
Clinical Findings in Pelizaeus-Merzbacher Disease
Journal of child neurology, v 19(5), pp 328-331
01 May 2004
PMID: 15224705
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Pelizaeus-Merzbacher disease is a rare X-linked disease characterized by defective central nervous system myelination owing to a mutation in the proteolipid protein 1 gene. Few studies report detailed clinical findings in children with genetic confirmation of mutations in the proteolipid protein 1 gene. We reviewed the records of 10 boys with Pelizaeus-Merzbacher disease and one symptomatic carrier girl. Their median age was 2½ years (range 10 months to 20 years). Nine had proteolipid protein 1 gene duplications, one had a point mutation, and one had a single codon deletion. The families of eight patients reported perinatal complications, including maternal hypertension (three patients) and meconium aspiration (three patients). All of the patients were social and interactive, but all had difficulty with expressive speech. All patients presented with nystagmus and had hypotonia that progressed to spasticity, affecting the legs more than the arms; ataxia also contributed to motor impairment. Additional problems reported regarded feeding (eight patients) and sleep (three patients). Further work is needed to clarify the variations in disease course and the relationship of genotype to phenotype. (J Child Neurol 2004;19:328-331).
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Details
- Title
- Clinical Findings in Pelizaeus-Merzbacher Disease
- Creators
- Meredith R. Golomb - Indiana University – Purdue University IndianapolisLaurence E. Walsh - Indiana University – Purdue University IndianapolisKaren S. Carvalho - Indiana University – Purdue University IndianapolisCelanie K. Christensen - Indiana University – Purdue University IndianapolisWilliam E. DeMyer - Indiana University – Purdue University Indianapolis
- Publication Details
- Journal of child neurology, v 19(5), pp 328-331
- Publisher
- Sage
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000222017000004
- Scopus ID
- 2-s2.0-3042701677
- Other Identifier
- 991021448056104721
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InCites Highlights
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Clinical Neurology
- Pediatrics