title: Clinical findings in Pelizaeus-Merzbacher disease.
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 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.
authors.affiliation: Department of Neurology, Division of Pediatric Neurology, Indiana University School of Medicine, Indianapolis, IN, USA. mgolomb@iupui.edu
authors.forename: Meredith R
authors.initials: MR
authors.lastname: Golomb
authors.forename: Laurence E
authors.initials: LE
authors.lastname: Walsh
authors.forename: Karen S
authors.initials: KS
authors.lastname: Carvalho
authors.forename: Celanie K
authors.initials: CK
authors.lastname: Christensen
authors.forename: William E
authors.initials: WE
authors.lastname: DeMyer
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000209:etiology*; D004066:Digestive System Diseases / Q000209:etiology; D004827:Epilepsy / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D019957:Motor Skills Disorders / Q000209:etiology*; D020371:Pelizaeus-Merzbacher Disease / Q000150:complications* / Q000503:physiopathology / Q000601:surgery; D012120:Respiration Disorders / Q000209:etiology; D012600:Scoliosis / Q000209:etiology; D012893:Sleep Wake Disorders / Q000209:etiology; D013064:Speech Disorders / Q000209:etiology*