Phenotypic characterization of hypomyelination and congenital cataract
Phenotypic characterization of hypomyelination and congenital cataract
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DOI：
10.1002/ana.21175
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发表时间：
2007-08-01
影响因子：
11.2
通讯作者：
Minetti, Carlo
中科院分区：
文献类型：
--
作者：
Biancheri, Roberta;Zara, Federico;Minetti, Carlo
目的：目的明确一种新的常染色体隐性遗传性白色疾病--髓鞘形成不足和先天性白内障的临床和实验室表现，该疾病是由位于染色体7p21.3-p15.3上的DRCTNNBIA基因编码的膜蛋白hyccin缺乏引起的。我们进行了神经系统检查，神经生理学检查，神经影像学检查，对5个家系的10例先天性白内障患者行腓肠神经活检和神经病理学检查。临床表现为双侧先天性白内障，发育迟缓，缓慢进行性神经功能缺损伴痉挛，小脑性共济失调和轻度至中度智力迟钝。神经生理学研究显示，10例患者中有9例运动神经传导速度轻微至明显减慢，多模式诱发电位显示中枢传导时间增加。神经影像学研究显示弥漫性幕上髓鞘形成不足，在一些患者中，额区有更多更突出的信号变化。腓肠神经活检显示有髓纤维密度轻度至重度减少，有几个轴突周围的薄髓鞘或缺乏myelin.Interpretation：髓鞘形成不足和先天性白内障是一种新的常染色体隐性白色物质疾病的特点是独特的协会先天性白内障和髓鞘形成不足的中枢和外周神经系统。
Objective: To define the clinical and laboratory findings in a novel autosomal recessive white matter disorder called hypomyelination and congenital cataract, recently found to be caused by a deficiency of a membrane protein, hyccin, encoded by the DRCTNNBIA gene located on chromosome 7p21.3-p15.3.Methods: We performed neurological examination, neurophysiological, neuroimaging, and neuropathological studies on sural nerve biopsy in 10 hypomyelination and congenital cataract patients from 5 unrelated families.Results: The clinical picture was characterized by bilateral congenital cataract, developmental delay, and slowly progressive neurological impairment with spasticiry, cerebellar ataxia, and mild-to-moderate mental retardation. Neurophysiological studies showed a slightly to markedly slowed motor nerve conduction velocity in 9 of 10 patients, and multimodal evoked potentials indicated increased central conduction times. Neuroimaging studies demonstrated a diffuse supratentorial hypomyelination, with in some patients, additional areas of more prominent signal change in the frontal region. Sural nerve biopsy showed a slight-to-severe reduction in myelinated fiber density, with several axons surrounded by a thin myelin sheath or devoid of myelin.Interpretation: Hypomyelination and congenital cataract is a novel autosomal recessive white matter disorder characterized by the unique association of congenital cataract and hypomyelination of the central and peripheral nervous system.