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- Title
ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY.
- Authors
MEHDİKHANOVA, Lala; ŞİRİN, Nermin Görkem; BİLGİÇ, Başar; HANAĞASI, Haşmet; BAŞAK, Ayşe Nazlı; BASLO, Mehmet Barış; ORHAN, Elif KOCASOY
- Abstract
The autosomal recessive spastic ataxia of CharlevoixSaguenay (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.
- Subjects
GENETIC disorders; ATAXIA; SPINOCEREBELLAR ataxia; CEREBELLUM degeneration; ELECTROPHYSIOLOGY; POLYNEUROPATHIES; DISEASE progression
- Publication
Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022, Vol 85, Issue 2, p275
- ISSN
1305-6441
- Publication type
Article
- DOI
10.26650/IUITFD.984032