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

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

Research output: Contribution to journalArticle

15 Citations (Scopus)

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

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Pelizaeus-Merzbacher Disease
Paraplegia
Mutation
Congenital Nystagmus
Mothers
Spastic Paraparesis
Proteolipids
Nervous System Diseases
Cognition
Walking
Magnetic Resonance Imaging
Proteins

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria. / Naidu, S.; Dlouhy, Stephen; Geraghty, M. T.; Hodes, M. E.

In: Journal of Inherited Metabolic Disease, Vol. 20, No. 6, 1997, p. 811-816.

Research output: Contribution to journalArticle

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