Document Detail

Clinical findings in Pelizaeus-Merzbacher disease.
MedLine Citation:
PMID:  15224705     Owner:  NLM     Status:  MEDLINE    
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 2 1/2 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.
Meredith R Golomb; Laurence E Walsh; Karen S Carvalho; Celanie K Christensen; William E DeMyer
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of child neurology     Volume:  19     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2004 May 
Date Detail:
Created Date:  2004-06-30     Completed Date:  2004-10-05     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  Canada    
Other Details:
Languages:  eng     Pagination:  328-31     Citation Subset:  IM    
Department of Neurology, Division of Pediatric Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.
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MeSH Terms
Child, Preschool
Cognition Disorders / etiology*
Digestive System Diseases / etiology
Epilepsy / etiology*
Motor Skills Disorders / etiology*
Pelizaeus-Merzbacher Disease / complications*,  physiopathology,  surgery
Respiration Disorders / etiology
Scoliosis / etiology
Sleep Disorders / etiology
Speech Disorders / etiology*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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