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Heterogeneity of X‐linked recessive (Spino)cerebellar ataxia with or without spastic diplegia

Heterogeneity of X‐linked recessive (Spino)cerebellar ataxia with or without spastic diplegia Ataxia with spastic diplegia was seen in seven males of a Turkish family, obviously transmitted as an X‐linked recessive trait. The first clinical sign in infancy was nystagmus; ataxia and pyramidal signs were noted at age 2–3 years. Patients were never able to walk. Dysarthria, orthopedic impairment, and mild mental retardation appeared later as the disorder progressed. Death occurred in the 3rd or 4th decade from infectious diseases. The syndrome resembles X‐linked spinocerebellar ataxia and X‐linked spastic paraplegia in some aspects but is different if compared with previously published reports. Laboratory and neurophysiological studies showed no abnormalities. Various aspects of X‐linked ataxia are discussed: genetic heterogeneity is apparent from observations reported. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Heterogeneity of X‐linked recessive (Spino)cerebellar ataxia with or without spastic diplegia

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References (30)

Publisher
Wiley
Copyright
Copyright © 1989 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.1320340203
pmid
2816991
Publisher site
See Article on Publisher Site

Abstract

Ataxia with spastic diplegia was seen in seven males of a Turkish family, obviously transmitted as an X‐linked recessive trait. The first clinical sign in infancy was nystagmus; ataxia and pyramidal signs were noted at age 2–3 years. Patients were never able to walk. Dysarthria, orthopedic impairment, and mild mental retardation appeared later as the disorder progressed. Death occurred in the 3rd or 4th decade from infectious diseases. The syndrome resembles X‐linked spinocerebellar ataxia and X‐linked spastic paraplegia in some aspects but is different if compared with previously published reports. Laboratory and neurophysiological studies showed no abnormalities. Various aspects of X‐linked ataxia are discussed: genetic heterogeneity is apparent from observations reported.

Journal

American Journal of Medical Genetics Part AWiley

Published: Oct 1, 1989

Keywords: ; ;

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