Alkali Nura Hamidu, Bwala Sunday A, Alimi Saeed A, Oyakhire Shyngle I
Department of Medicine, ATBU Teaching Hospital, PMB 0117 Bauchi, Nigeia.
Ann Afr Med. 2016 Apr-Jun;15(2):87-90. doi: 10.4103/1596-3519.176205.
Spinocerebellar ataxia type-7 (SCA7) is a cytosine-adenine-guanine (CAG) repeat polyglutamine disorder characterized by progressive degeneration of the cerebellum, brainstem, spinal cord, and retina. Clinical features include progressive ataxia, visual loss, pyramidal weakness, sensory impairment, and dementia. Among the autosomal dominant cerebellar ataxias, SCA7 is relatively common in Scandinavia and South Africa but rare worldwide and is not previously reported in Nigeria. In this study, we describe a family in Katsina State, Northwest Nigeria, with nine individuals across three generations affected by the SCA7 phenotype. Analysis of DNA from proband and two affected relatives revealed 39 CAG repeat expansions in one allele of ataxin-7 in each.
7型脊髓小脑共济失调（SCA7）是一种胞嘧啶-腺嘌呤-鸟嘌呤（CAG）重复多聚谷氨酰胺疾病，其特征为小脑、脑干、脊髓和视网膜进行性退化。临床特征包括进行性共济失调、视力丧失、锥体肌无力、感觉障碍和痴呆。在常染色体显性遗传性小脑共济失调中，SCA7在斯堪的纳维亚半岛和南非相对常见，但在全球范围内较为罕见，尼日利亚此前尚无相关报道。在本研究中，我们描述了尼日利亚西北部卡齐纳州的一个家族，三代人中共有9人受SCA7表型影响。对先证者和两名受影响亲属的DNA分析显示，每个人的ataxin-7一个等位基因中均有39个CAG重复扩增。
