Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease

M. A. Nance, Simeon Boyd, V. M. Pratt, S. Taylor, M. E. Hodes, S. R. Dlouhy

Research output: Contribution to journalArticle

32 Scopus citations

Abstract

A 23-year-old man with Pelizaeus-Merzbacher disease had a novel mutation, C344A (Thr115Lys), in exon 3 of the proteolipid protein gene (PLP). His mother, heterozygous for the mutation, developed progressive personality change and a gait disorder in her mid-20s. Her MRI at age 53 showed a diffuse severe leukodystrophy. This report extends the phenotypic range of disease due to PLP gene mutations to include adult-onset dementia in females.

Original languageEnglish (US)
Pages (from-to)1333-1335
Number of pages3
JournalNeurology
Volume47
Issue number5
StatePublished - Nov 1996
Externally publishedYes

ASJC Scopus subject areas

  • Neuroscience(all)

Fingerprint Dive into the research topics of 'Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease'. Together they form a unique fingerprint.

Cite this