França Marcondes C, Calcagnotto Maria E, da Costa Jaderson C, Lopes-Cendes Iscia
Department of Neurology, Universidade Estadual de Campinas-UNICAMP, Campinas, Brazil.
Mov Disord. 2006 Jul;21(7):1051-3. doi: 10.1002/mds.20893.
Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal-dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for SCA2 and SCA3 segregating simultaneously in a single Brazilian family. The index patient had SCA2, whereas her two second-degree cousins had SCA3. Disease was more rapidly progressive in the SCA2 patient, who presented severe brainstem and pancerebellar atrophy, as opposed to the two SCA3 patients, who had only mild cerebellar vermian atrophy. In such situations, molecular confirmation of all patients may avoid misdiagnosis of SCA subtypes and eventual errors in predictive testing of unaffected family members.
2型和3型脊髓小脑共济失调（SCA）是由两个不同基因的突变引起的常染色体显性神经退行性疾病。我们在一个巴西家庭中发现了SCA2和SCA3的突变同时存在。索引患者患有SCA2，而她的两个二级表亲患有SCA3。SCA2患者的疾病进展更快，出现了严重的脑干和全小脑萎缩，而两名SCA3患者仅有轻度小脑蚓部萎缩。在这种情况下，对所有患者进行分子确诊可避免SCA亚型的误诊以及对未受影响家庭成员进行预测性检测时最终出现的错误。
