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Journals / İstanbul Tıp Fakültesi Dergisi / 2026 / Cilt: 85 Sayı: 2

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

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

Lala Mehdikhanova(ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE)0000-0003-1239-8987
Nermin Görkem Şirin(İSTANBUL ÜNİVERSİTESİ, İSTANBUL TIP FAKÜLTESİ)0000-0001-8792-2929
Başar Bilgiç(ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE)0000-0001-6032-0856
Haşmet Hanağası(ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE)0000-0002-4624-4428
Nazlı Başak(KOC UNIVERSITY, SCHOOL OF MEDICINE)0000-0001-6977-2517
Barış Baslo(ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE)0000-0003-1551-0559
Elif Kocasoy Orhan(ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE)0000-0002-2110-4832
Pages
275–278
Publication Date
2022-03-24
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Rare hereditary diseases such as ARSACS must be suspected in the presence of polyneuropathies with demyelinating characteristics accompanying pyramidal findings and ataxia.

📌 3 Key Takeaways

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Objective & Hypothesis:The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), presenting with spinocerebellar ataxia, dysarthria, nystagmus, and spastic paraparesis, is a gradually progressive hereditary disease.
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Key Findings & Data:Sensorimotor polyneuropathy may also accompany the symptoms.
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Conclusion & Impact:Rare hereditary diseases such as ARSACS must be suspected in the presence of polyneuropathies with demyelinating characteristics accompanying pyramidal findings and ataxia.
🔬Design:Olgu Sunumu
📍Scope:Comprehensive Sample
⚙️Variables:Charlevoix-Saguenay · ARSACS · elektromiyografi

Abstract

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.

Özet

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.

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Cite This Article

Mehdikhanova, L., Şirin, N. G., Bilgiç, B., Hanağası, H., Başak, N., Baslo, B., Orhan, E. K. (2022). ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY. İstanbul Tıp Fakültesi Dergisi, Cilt: 85 Sayı: 2, 275–278. https://doi.org/10.26650/IUITFD.984032

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