Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult
Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult
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DOI：
10.1002/mds.20804
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发表时间：
2006-06-01
影响因子：
8.6
通讯作者：
McGill, Jim
中科院分区：
文献类型：
--
作者：
Schoffer, Kerrie L.;O'Sullivan, John D.;McGill, Jim
先天性糖基化失调（先天性糖基化失调）是最近被描述的一组未被充分认识的综合征，其生化特征是血清和细胞糖蛋白的异常糖基化。我们报告了一位先前未确诊的成年男性，他在精神障碍、周围神经病变、视网膜病变、身体畸形、心肌病和性腺功能减退的背景下表现为早发性小脑性共济失调。最新的筛查和基因检测证实诊断为CDG Ia型。本病例强调CDG应被视为早发性小脑性共济失调的成人的鉴别诊断，特别是那些具有上述特征的人，并且未确诊的儿童共济失调病例可能需要重新评估，因为现在可以进行测试。(c) 2006年运动障碍协会。
Congenital disorders of glycosylation (CDG) are a recently described, underrecognized group of syndromes characterized biochemically by abnormal glycosylation of serum and cellular glycoproteins. We report a previously undiagnosed adult male who presented with early-onset cerebellar ataxia in the context of mental impairment, peripheral neuropathy, retinopathy, body dysmorphism, cardiomyopathy, and hypogonadism. Newly available screening and genetic testing confirmed the diagnosis as CDG type Ia. This case emphasizes that CDG should be considered as a differential diagnosis for adults with early-onset cerebellar ataxia, particularly in those persons with the aforementioned features, and that undiagnosed cases of childhood ataxia may require reassessment now that testing is available. (c) 2006 Movement Disorder Society.