The clinical diagnosis of inherited spinocerebellar ataxias is difficult, because phenotypes frequently overlap. The authors attempt to review the different inherited ataxia syndromes, discussing the most frequent one, Friedreich-ataxia in detail. The case of a patient with Friedreich-ataxia is presented, where the genetically supported diagnosis has been made more than ten years following the onset of the symptoms, after several hospitalizations and misdiagnosis. The correct diagnosis can be established based on the Geoffroy-Harding criteria and gene mutation analysis.
|Number of pages||12|
|Publication status||Published - Nov 20 2002|
ASJC Scopus subject areas
- Clinical Neurology