A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria

S. Naidu, S. R. Dlouhy, M. T. Geraghty, M. E. Hodes

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

A 3.5-year-old boy had intact cognition, delayed walking, progressive spastic paraparesis and congenital nystagmus. The mother denied family history of any neurological disorders, so an extensive work-up was begun. Lysinuria, increased signal on cerebral T2-weighted MRI imaging and the rumpshaker mutation (Ile186Thr) in his proteolipid protein gene, PLP, were found. When faced with these facts, the mother admitted that she was related to the family reported by Johnston and McKusick in 1962 and Kobayashi in 1994, in whom this mutation has been reported. This is the first report of an abnormal MRI scan in this family.

Original languageEnglish (US)
Pages (from-to)811-816
Number of pages6
JournalJournal of Inherited Metabolic Disease
Volume20
Issue number6
DOIs
StatePublished - Dec 4 1997

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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