Abstract

Among hereditary ataxias, autosomal recessive cerebellar ataxias comprise a distinct group of neurodegenerative diseases. Clinical phenotypes range widely from cerebellar syndrome to sensorimotor neuropathy, ophthalmological disturbances, involuntary movements, seizure, cognitive dysfunction, skeletal anomalies, and cutaneous disorders. Therefore, it is important to recognize and differentiate other autosomal recessive cerebellar ataxias except Friedreich’s ataxia, which is the most common type. By this way, progression of some of these ataxia types may be stopped and even improvement may be achieved with early diagnosis and treatment.