16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study
16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study
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DOI：
10.1016/j.jns.2006.04.009
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发表时间：
2006-09-25
影响因子：
4.4
通讯作者：
Takiyama, Y.
中科院分区：
文献类型：
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作者：
Ouyang, Y.;Sakoe, K.;Takiyama, Y.
常染色体显性遗传性小脑共济失调（ADCA）包括一组遗传和临床异质性的神经退行性疾病。最近，发现puratrophin-1基因中的C至T单核苷酸取代与染色体16q22.1上的ADCA形式（16 q-linked ADCA; OMIM 600223）密切相关。我们在20例共济失调患者（16例杂合子和4例纯合子）和4例无症状携带者中发现了puratrophin-1基因的C-到-T置换，其中9/24个ADCA类型未知的家族。我们还发现了两个16 q连锁ADCA的43例散发患者迟发性皮质小脑萎缩（LCCA）。22例患者的平均发病年龄为61.8岁，其中1例纯合子患者的平均发病年龄低于杂合子患者。神经系统检查显示，我们的大多数患者除了小脑共济失调的主要症状（100%）外，还表现出夸张的深腱反射，其中37.5%的患者有感音神经性听力障碍，而感觉轴索神经病则不存在。16 q连锁ADCA的频率约为我们110个ADCA家族的110，使其成为日本第三常见的ADCA。(c)2006 Elsevier B. V.保留所有权利。
The autosomal dominant cerebellar ataxias (ADCAs) comprise a genetically and clinically heterogenous group of neurodegenerative disorders. Very recently, a C-to-T single nucleotide substitution in the puratrophin-1 gene was found to be strongly associated with a form of ADCA linked to chromosome 16q22.1 (16q-linked ADCA; OMIM 600223). We found the C-to-T substitution in the puratrophin-1 gene in 20 patients with ataxia (16 heterozygotes and four homozygotes) and four asymptomatic carriers in 9 of 24 families with an unknown type of ADCA. We also found two cases with 16q-linked ADCA among 43 sporadic patients with late-onset cortical cerebellar atrophy (LCCA). The mean age at onset in the 22 patients was 61.8 years, and that of homozygous patients was lower than that of heterozygous ones in one family. Neurological examination revealed that the majority of our patients showed exaggerated deep tendon reflexes in addition to the cardinal symptom of cerebellar ataxia (100%), and 37.5% of them had sensorineural hearing impairment, whereas sensory axonal neuropathy was absent. The frequency of 16q-linked ADCA was about 1/10 of our series of 110 ADCA families, making it the third most frequent ADCA in Japan. (c) 2006 Elsevier B.V. All rights reserved.