Early diagnosis of spinocerebellar ataxia

Abstract

It is hard to define the initiation of genetically determined neurodegenerative diseases because of their gradual and slowly progressive nature. This is particularly true for spinocerebellar ataxia (SCA) due to differing affection of many parts of the nervous system and tremendous symptom variability. In 287 patients with SCA1, SCA2, SCA3 or SCA6, we investigated early symptoms and calculated the influence of CAG repeat length on age of onset depending on (1) the definition of onset of disease, (2) the definition of onset, and (3) the duration of the symptoms. The primary symptom in two-thirds of patients was discomfort with gait. In 4% of patients, respectively, ataxia accompanied double vision, dysarthria, poor hand writing and episodic vertigo. Data on on onset of disease ranged for 1 year or more in 44 percent of cases between patients and family