Kayal Ashok K, Goswami Munindra, Das Marami, Masaraf Hussain
Department of Neurology, Gauhati Medical College, Bhangagarh, Guwahati, Assam.
Ann Indian Acad Neurol. 2011 Apr;14(2):122-3. doi: 10.4103/0972-2327.82802.
Here we present the case of a 17-year-old girl belonging to an ethnic tribe (Bodo tribe) of Assam, presenting with bilateral cerebellar signs and with history suggestive of an autosomal dominant pattern of inheritance, who was found to have spinocerebellar ataxia 7 on genetic testing. This case throws light on the probability of more such cases in the multi-ethnic society of the North-Eastern Indian states, which are not studied or reported till date.
在此,我们报告一例17岁女孩的病例,她属于阿萨姆邦的一个民族部落(博多部落),出现双侧小脑体征,并有提示常染色体显性遗传模式的病史,基因检测发现其患有7型脊髓小脑共济失调。该病例揭示了在印度东北部各邦的多民族社会中可能存在更多此类未被研究或报道过的病例。