부산대학교 도서관

INTRODUCTION The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a progressive hereditary disease characterized by ataxia and spastic paraparesis. Sensorimotor polyneuropathy may also accompany the symptoms (1). The sacsin [...]
The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), presenting with spinocerebellar ataxia, dysarthria, nystagmus, and spastic paraparesis, is a gradually progressive hereditary disease. Sensorimotor polyneuropathy may also accompany the symptoms. Herein, we present the electrophysiologic findings of a Turkish family with ARSACS in combination with clinical and genetic features to better describe the characteristics of the polyneuropathy in ARSACS. Regarding the electrophysiologic findings, however, the demyelinating characteristics were prominent and there were findings compatible with secondary axonal degeneration. Rare hereditary diseases such as ARSACS must be suspected in the presence of polyneuropathies with demyelinating characteristics accompanying pyramidal findings and ataxia. Keywords: Charlevoix-Saguenay, ARSACS, electrodiagnosis, demyelinating polyneuropathy Charlevoix-Saguenay'in otozomal resesif spastik ataksi sendromu (ARSCAS), spinoserebellar ataksi, dizartri, nistagmus ve spastik paraparezi ile seyreden ilerleyici bir herediter hastaliktir. Sensorimotor polinoropati semptomlara eslik edebilir. Bu vaka serisinde, ARSACS'a eslik eden polinoropatinin niteliklerinin daha iyi anlasilmasi amaciyla, ARSACS'li bir ailede klinik ve genetik ozellikler ile birlikte elektrofizyolojik bulgular sunulmustur. Elektrofizyolojik bulgular, demiyelinizan ozellikte bir polinoropati sendromu varligi ile uyumlu olsa da, hastalarda ikincil aksonal dejenerasyonu isaret eden bulgularda mevcuttu. Demiyelinizan ozellikli bir polinoropatiye piramidal bulgular ve ataksi eslik ettiginde ARSACS gibi nadir herediter hastaliktan suphelenilmelidir. Anahtar Kelimeler: Charlevoix-Saguenay, ARSACS, elektromiyografi, demiyelinizan polinoropati