ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY

The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), presenting with spinocerebellar ataxia, dysarthria, nystagmus, and paraparesis, is a gradually progressive hereditary disease. Sensorimotor polyneuropathy may also accompany the symptoms. Herein, we present electrophysiologic findings Turkish family ARSACS in combination clinical genetic features to better describe characteristics ARSACS. Regarding findings, however, demyelinating were prominent there compatible secondary axonal degeneration. Rare diseases such as must be suspected presence polyneuropathies accompanying pyramidal ataxia.