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

31 Citations (Scopus)

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

Fingerprint

Pelizaeus-Merzbacher Disease
Proteolipids
Neurodegenerative Diseases
Mothers
Mutation
Proteins
Gait
Personality
Dementia
Exons
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease. / Nance, M. A.; Boyd, Simeon; Pratt, V. M.; Taylor, S.; Hodes, M. E.; Dlouhy, S. R.

In: Neurology, Vol. 47, No. 5, 11.1996, p. 1333-1335.

Research output: Contribution to journalArticle

Nance, M. A. ; Boyd, Simeon ; Pratt, V. M. ; Taylor, S. ; Hodes, M. E. ; Dlouhy, S. R. / Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease. In: Neurology. 1996 ; Vol. 47, No. 5. pp. 1333-1335.
@article{716145b2f1f447ceb449cbb9ebfd86f6,
title = "Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease",
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.",
author = "Nance, {M. A.} and Simeon Boyd and Pratt, {V. M.} and S. Taylor and Hodes, {M. E.} and Dlouhy, {S. R.}",
year = "1996",
month = "11",
language = "English (US)",
volume = "47",
pages = "1333--1335",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "5",

}

TY - JOUR

T1 - Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease

AU - Nance, M. A.

AU - Boyd, Simeon

AU - Pratt, V. M.

AU - Taylor, S.

AU - Hodes, M. E.

AU - Dlouhy, S. R.

PY - 1996/11

Y1 - 1996/11

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0029960739&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029960739&partnerID=8YFLogxK

M3 - Article

C2 - 8909455

AN - SCOPUS:0029960739

VL - 47

SP - 1333

EP - 1335

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 5

ER -