CHARLEVOİX-SAGUENAY’IN OTOZOMAL RESESİF SPASTİK ATAKSİ SENDROMU: BİR TÜRK AİLESİNDE ELEKTROFİZYOLOJİK ÖZELLİKLER

Charlevoix-Saguenay’ın otozomal resesif spastik ataksi sendromu (ARSCAS), spinoserebellar ataksi, dizartri, nistagmus ve spastik paraparezi ile seyreden ilerleyici bir herediter hastalıktır. Sensörimotor polinöropati semptomlara eşlik edebilir. Bu vaka serisinde, ARSACS’a eşlik eden polinöropatinin niteliklerinin daha iyi anlaşılması amacıyla, ARSACS’lı bir ailede klinik ve genetik özellikler ile birlikte elektrofizyolojik bulgular sunulmuştur. Elektrofizyolojik bulgular, demiyelinizan özellikte bir polinöropati sendromu varlığı ile uyumlu olsa da, hastalarda ikincil aksonal dejenerasyonu işaret eden bulgularda mevcuttu. Demiyelinizan özellikli bir polinöropatiye piramidal bulgular ve ataksi eşlik ettiğinde ARSACS gibi nadir herediter hastalıktan şüphelenilmelidir.

Anahtar Kelimeler:

Charlevoix-Saguenay, ARSACS, elektromiyografi, demiyelinizan polinöropati, Charlevoix-Saguenay, ARSACS, elektromiyografi, demiyelinizan polinöropati

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 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:

ARSACS, electrodiagnosis, demyelinating polyneuropathy, Charlevoix-Saguenay,

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