Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia

We report a family affected by autosomal dominant ataxia, in which numerous members also showed microcytosis. Genetic analysis demonstrated a CAG expa nsion in the SCA1 locus in five members, while all subjects with microcytos is revealed a C-T substitution at codon 39 of the bera-globin gene. A pure cerebellar syndrome with prominent gait ataxia characterized the first stag es of the neurological disease. The fully developed disease included additi onal clinical findings such as dysarthria and dysphagia, and instrumental s igns of axonal involvement of the peripheral nerves. Ophthalmoplegia was no t observed. The coexistence of hereditary spinocerebellar degeneration and erythropathies or hemoglobinopathies has been previously described. We disc uss the possible linkages between these two pathologies.