Ataxia espinocerebelosa tipo 8: presentación de una família española

Introduction. Dominant autosomic ataxias include a group of neurodegenerative diseases characterized by the abnormal expansion of triplets. Case report. Male aged 33, with expansion of the SCA 8 gene (100 repetitions), who presented a clinical picture compatible with a pancerebellar syndrome. The patient had been diagnosed 11 years earlier as suffering from previously of histocytosis X. A clinico-genetic study was conducted on the patient and several members ofhis family (parents and two sisters). Both sisters and the father were found to be carriers of the expansion (110 and 150 repetitions, respectively), and are currently asymptomatic. Results and discussion. There is no relation between the number of repetitions and the age of onset of the disease. The normal interval in our population oscillates between 16-37 repetitions, and the pathological interval has not been well determined. There may be a relation between the SCA 8 form and histiocytosis X