期刊
NEUROLOGY
卷 79, 期 14, 页码 1507-1514出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0b013e31826d5fb0
关键词
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资金
- Netherlands Organization of Health Research and Development [ZonMW RM000085]
- European Union
- Prinses Beatrix Fonds
- Dutch Brain Foundation
- Dutch Royal Society for Physical Therapy
- Ipsen Pharmaceuticals
Although the combined presence of ataxia and pyramidal features has a long differential, the presence of a true spastic-ataxia as the predominant clinical syndrome has a rather limited differential diagnosis. Autosomal recessive ataxia of Charlevoix-Saguenay, late-onset Friedreich ataxia, and hereditary spastic paraplegia type 7 are examples of genetic diseases with such a prominent spastic-ataxic syndrome as the clinical hallmark. We review the various causes of spastic-ataxic syndromes with a focus on the genetic disorders, and provide a clinical framework, based on age at onset, mode of inheritance, and additional clinical features and neuroimaging signs, that could serve the diagnostic workup. Neurology (R) 2012;79:1507-1514
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