ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY
Tarih
2022Yazar
Mehdikhanova, Lala
Sirin, Nermin Gorkem
Bilgic, Basar
Hanagasi, Hasmet
Basak, Ayse Nazli
Baslo, Mehmet Baris
Kocasoy Orhan, Elif
Üst veri
Tüm öğe kaydını gösterÖzet
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.
Bağlantı
http://hdl.handle.net/20.500.12627/181877https://doi.org/10.26650/iuitfd.984032
https://avesis.istanbul.edu.tr/api/publication/1ef3b09b-d325-4ca9-80f7-ae75a588cc15/file
Koleksiyonlar
- Makale [2276]