[Friedreich ataxia--diagnosis after a decade. Differential diagnosis of inherited spinocerebellar ataxias].
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.
Vitaszil
Edina
E
Semmelweis Egyetem, Neurológiai Klinika, H-1083 Budapest, Balassa u. 6.
Jelencsik
Ilona
I
Szirmai
Imre
I
D003937:Diagnosis, Differential; D005621:Friedreich Ataxia / Q000175:diagnosis*; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics*