An approach to the patient with late-onset cerebellar ataxia
An approach to the patient with late-onset cerebellar ataxia
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DOI：
10.1038/ncpneuro0319
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发表时间：
2006-11-01
期刊：
影响因子：
--
通讯作者：
Perlman, Susan
中科院分区：
文献类型：
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作者：
Fogel, Brent L.;Perlman, Susan
背景一位83岁的男性，患有高血压、高脂血症和基底细胞癌，在78岁时出现进行性平衡恶化和行走困难。他最初被诊断出患有中风，但核磁共振成像显示只有孤立的小脑萎缩。然后，患者接受了潜在的副肿瘤过程的多次评估，所有这些都是阴性的，但他的症状进展，他仍然未被诊断数年。调查神经系统检查，实验室血液检查，MRI和定向基因检测。诊断五年后出现症状，患者重新评估可能的遗传性共济失调综合征，随后通过基因检测证实为脊髓小脑性共济失调6型（SCA6）。治疗症状药物治疗和物理、职业和语言治疗。
Background An 83-year-old man presented with hypertension, hyperlipidemia, and a previous basal cell carcinoma, having developed progressive worsening of his balance and difficulty walking at the age of 78 years. He was initially diagnosed with stroke, but MRI revealed only isolated cerebellar atrophy. The patient then underwent multiple evaluations for an underlying paraneoplastic process, all of which were negative, but his symptoms progressed and he remained undiagnosed for several years.Investigations Neurological examination, laboratory blood tests, MRI, and directed genetic testing.Diagnosis Five years after becoming symptomatic, the patient was re-evaluated for a possible genetic ataxia syndrome, which was subsequently confirmed by gene testing as spinocerebellar ataxia type 6 (SCA6).Management Symptomatic medical treatment and physical, occupational, and speech therapy.