Department of Neurology, Jawaharlal Nehru Medical College, Wardha, Maharashtra, India.
Department of Paediatrics, Jawaharlal Nehru Medical College, Wardha, Maharashtra, India
BMJ Case Rep. 2021 Jun 30;14(6):e241767. doi: 10.1136/bcr-2021-241767.
Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited cerebellar ataxias. The pathogenic variants of the gene have been implicated in ATX-SETX. We report the case of a 21-year-old woman presenting with ataxia, oculomotor apraxia and dystonia. She had elevated serum α-fetoprotein (AFP), follicle stimulating hormone (FSH) and luteinising hormone (LH) levels and moderate cerebellar atrophy. On further evaluation, she was found to have premature ovarian failure as well. Multiplex ligation-dependent probe amplification detected a heterozygous deletion in exon 6 of the gene. A combination of cerebellar ataxia, oculomotor apraxia with elevated AFP and cerebellar atrophy are highly suggestive of ATX-SETX. In rare instances, it may be associated with premature ovarian failure with elevated FSH and LH levels, necessitating hormonal survey and fertility evaluation in all patients with ATX-SETX.
眼动运动不能性小脑共济失调 2 型（AOA2），最近更名为 ATX-SETX，是一种常染色体隐性、进行性神经退行性疾病，属于遗传性小脑共济失调。该基因的致病性变异与 ATX-SETX 有关。我们报告了一例 21 岁女性，表现为共济失调、眼球运动不能和肌张力障碍。她的血清甲胎蛋白（AFP）、卵泡刺激素（FSH）和黄体生成素（LH）水平升高，并有中度小脑萎缩。进一步评估发现她还患有卵巢早衰。多重连接依赖性探针扩增检测到该基因第 6 外显子的杂合性缺失。结合小脑共济失调、眼球运动不能、AFP 升高和小脑萎缩，高度提示为 ATX-SETX。在极少数情况下，它可能与卵巢早衰伴 FSH 和 LH 水平升高有关，因此所有 ATX-SETX 患者都需要进行激素检测和生育能力评估。
