From the Department of Neurology (J.A.V.), Emory University School of Medicine, Atlanta; Departments of Neurology (R.A.P., A.G.H., D.R.L., W.W.A.) and Ophthalmology (A.G.H.), University of Pennsylvania Perelman School of Medicine, Philadelphia; and Division of Neurology (D.R.L.), Department of Pediatrics, Children's Hospital of Philadelphia, PA.
Neurology. 2023 Oct 24;101(17):e1747-e1752. doi: 10.1212/WNL.0000000000207658. Epub 2023 Aug 18.
A 48-year-old man was referred to the movement disorders clinic for 10 years of progressive slurred speech, spasticity, limb incoordination, and wide-based gait. Extensive neurologic workup was inconclusive, including serum and CSF testing, neuroimaging, EMG/NCS, exome sequencing, and mitochondrial testing. An ataxia repeat expansion panel ultimately revealed the final diagnosis. In this report, we review the clinical characteristics of a rare, late-onset, autosomal recessive cerebellar ataxia and discuss the importance of pursuing targeted gene testing to avoid diagnostic delays, especially as new treatments for this and other genetic diseases become available.
一位 48 岁男性，因进行性言语含糊、痉挛、肢体共济失调和宽基底步态，被转诊至运动障碍门诊就诊。10 年来进行了广泛的神经科检查，但结果均不明确，包括血清和 CSF 检测、神经影像学、EMG/NCS、外显子组测序和线粒体检测。最终，共济失调重复扩展面板揭示了明确的诊断。本报告回顾了一种罕见的、迟发性、常染色体隐性小脑共济失调的临床特征，并讨论了进行靶向基因检测的重要性，以避免诊断延误，尤其是在为这种疾病和其他遗传疾病提供新的治疗方法的情况下。
