The natural history of degenerative ataxia: a retrospective study in 466 patients.

摘要: The aim of the present study was (i) to compare disease progression and survival in different types degenerative ataxia, (ii) identify variables that may modify rate progression. We included patients suffering from Friedreich's ataxia (FRDA, n = 83), early onset cerebellar (EOCA, 30), autosomal dominant (ADCA) type I (ADCA-I, 273), ADCA-III (n 13) multiple system atrophy (MSA, 67). Molecular genetic testing allowed us assign 202 ADCA-I one following subgroups: spinocerebellar (SCAI, 36), SCA2 56) SCA3 110). To assess we defined stages: stage 0 no gait difficulties; 1 onset, as by 2 loss independent gait; 3 confinement wheelchair; 4 death. Disease most rapid MSA, intermediate FRDA, slowest EOCA. similar SCA1, SCA3. CAG repeat length a significant risk factor for faster SCA3, but not SCA1. In time until wheelchair shorter with earlier suggesting long GAA repeats have poor prognosis. Female gender increased becoming dependent on walking aids or wheelchair, it did influence MSA. SCA2, female associated shortened survival. later age