X-linked recessive inheritance of ataxia and adult-onset dementia: Clinical features and preliminary linkage analysis

Martin R. Farlow, William DeMyer, Stephen R. Dlouhy, M. E. Hodes

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Three generations of a family exhibit a unique syndrome of X-linked ataxia, pyramidal tract signs, and adult-onset dementia. Initial signs, manifested by 2 to 3 years of age, are delayed walking and tremor. During their teens, the patients develop mild but progressive ataxia and pyramidal tract signs. Memory problems in the third decade initiate a progressive dementia, leading to death in the sixth decade. Laboratory investigations failed to disclose a biochemical basis for the syndrome. Preliminary molecular linkage studies have been conducted, and although the specific position of the responsible gene on the X chromosome has not yet been determined, the q26-qter region and much of the p arm unlikely sites for this gene. The linkage studies are continuing.

Original languageEnglish (US)
Pages (from-to)602-607
Number of pages6
JournalNeurology
Volume37
Issue number4
StatePublished - Apr 1987

Fingerprint

X-Linked Genes
Pyramidal Tracts
Ataxia
Dementia
Tremor
Walking
Genes

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

X-linked recessive inheritance of ataxia and adult-onset dementia : Clinical features and preliminary linkage analysis. / Farlow, Martin R.; DeMyer, William; Dlouhy, Stephen R.; Hodes, M. E.

In: Neurology, Vol. 37, No. 4, 04.1987, p. 602-607.

Research output: Contribution to journalArticle

@article{289f45ddc98e48cab62d2072f8ad5229,
title = "X-linked recessive inheritance of ataxia and adult-onset dementia: Clinical features and preliminary linkage analysis",
abstract = "Three generations of a family exhibit a unique syndrome of X-linked ataxia, pyramidal tract signs, and adult-onset dementia. Initial signs, manifested by 2 to 3 years of age, are delayed walking and tremor. During their teens, the patients develop mild but progressive ataxia and pyramidal tract signs. Memory problems in the third decade initiate a progressive dementia, leading to death in the sixth decade. Laboratory investigations failed to disclose a biochemical basis for the syndrome. Preliminary molecular linkage studies have been conducted, and although the specific position of the responsible gene on the X chromosome has not yet been determined, the q26-qter region and much of the p arm unlikely sites for this gene. The linkage studies are continuing.",
author = "Farlow, {Martin R.} and William DeMyer and Dlouhy, {Stephen R.} and Hodes, {M. E.}",
year = "1987",
month = "4",
language = "English (US)",
volume = "37",
pages = "602--607",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "4",

}

TY - JOUR

T1 - X-linked recessive inheritance of ataxia and adult-onset dementia

T2 - Clinical features and preliminary linkage analysis

AU - Farlow, Martin R.

AU - DeMyer, William

AU - Dlouhy, Stephen R.

AU - Hodes, M. E.

PY - 1987/4

Y1 - 1987/4

N2 - Three generations of a family exhibit a unique syndrome of X-linked ataxia, pyramidal tract signs, and adult-onset dementia. Initial signs, manifested by 2 to 3 years of age, are delayed walking and tremor. During their teens, the patients develop mild but progressive ataxia and pyramidal tract signs. Memory problems in the third decade initiate a progressive dementia, leading to death in the sixth decade. Laboratory investigations failed to disclose a biochemical basis for the syndrome. Preliminary molecular linkage studies have been conducted, and although the specific position of the responsible gene on the X chromosome has not yet been determined, the q26-qter region and much of the p arm unlikely sites for this gene. The linkage studies are continuing.

AB - Three generations of a family exhibit a unique syndrome of X-linked ataxia, pyramidal tract signs, and adult-onset dementia. Initial signs, manifested by 2 to 3 years of age, are delayed walking and tremor. During their teens, the patients develop mild but progressive ataxia and pyramidal tract signs. Memory problems in the third decade initiate a progressive dementia, leading to death in the sixth decade. Laboratory investigations failed to disclose a biochemical basis for the syndrome. Preliminary molecular linkage studies have been conducted, and although the specific position of the responsible gene on the X chromosome has not yet been determined, the q26-qter region and much of the p arm unlikely sites for this gene. The linkage studies are continuing.

UR - http://www.scopus.com/inward/record.url?scp=0023111723&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023111723&partnerID=8YFLogxK

M3 - Article

C2 - 3470628

AN - SCOPUS:0023111723

VL - 37

SP - 602

EP - 607

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 4

ER -