X连锁隐性先天性共济失调
Sex-linked recessive congenital ataxia.
作者信息
Young I D, Moore J R, Tripp J H
机构信息
Department of Child Health, Leicester Royal Infirmary, UK.
出版信息
J Neurol Neurosurg Psychiatry. 1987 Sep;50(9):1230-2. doi: 10.1136/jnnp.50.9.1230.
Abstract
A family is reported in which three boys, two full brothers and a half brother, presented with marked delay in motor milestones, severe limb and truncal ataxia, nystagmus, speech delay and moderate global retardation. Autosomal recessive and sex linked recessive forms of cerebellar hypoplasia are reviewed and it is suggested that this family may have a rare, if not unique, form of sex-linked cerebellar ataxia.
摘要
据报道，有一个家庭，其中三个男孩，两个亲兄弟和一个同父异母的兄弟，出现了明显的运动发育迟缓、严重的肢体和躯干共济失调、眼球震颤、语言发育迟缓以及中度的全面发育迟缓。本文回顾了常染色体隐性和性连锁隐性形式的小脑发育不全，并提出这个家庭可能有一种罕见的（即便不是独一无二的）性连锁小脑共济失调形式。
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本文引用的文献
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Evaluation of familial biochemically determined mental retardation in children, with special reference to aminoaciduria.儿童家族性生化测定智力迟钝的评估，特别提及氨基酸尿症。
N Engl J Med. 1960 Mar 31;262:658-65. doi: 10.1056/NEJM196003312621305.
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Unusual form of cerebellar ataxia with sex-linked inheritance.具有X连锁遗传的罕见型小脑共济失调。
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