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Abstract Details

SOD1 Mutation: A Single Center Experience
Neuromuscular and Clinical Neurophysiology (EMG)
Neuromuscular and Clinical Neurophysiology (EMG) Posters (7:00 AM-5:00 PM)
035
To investigate the clinical and genetic characteristics of the patients with Superoxide Dismutase 1 mutation (SOD1).
SOD1 is the first gene to be identified in genetic amyotrophic lateral sclerosis (ALS). It is the most frequent genetic cause of ALS in Japan, and the second most frequent in Western countries.

Herein, we retrospectively evaluated the clinical and genetic features of the 18 patients from 17 unrelated families with SOD1 mutation at the Neuromuscular Unit, Neurology Department, Istanbul Faculty of Medicine, Istanbul University, between 2005 and 2020.
Nine patients were female. Mean age at symptom onset was 43.82±11.04 (ranges 20-63 years), and mean follow-up period was 1.83±1.20 (ranges 1-5 years). Five patients were born to consanguineous marriages. Family history was positive in eleven probands. Asymmetric lower extremity weakness was the most common presenting symptom (10/18), followed by upper extremity weakness (3/18) and fasciculations (3/18). One patient showed bulbar symptoms at the disease onset. SOD1 mutation was identified coincidentally in one patient with Charcot-Marie-Tooth phenotype. In whole-exome sequencing, a homozygous SH3TC2 mutation was also elicited in this patient. In the mean disease duration of 4.05±3.26 (ranges 1-12 years), four patients died. The most frequent mutations in our cohort were homozygous D90A (3/18) and heterozygous L144F (3/18).
Our study highlighted the phenotypic spectrum of SOD1-related ALS. Revealed mutations may demonstrate the hot-spot regions of the SOD1 gene in the Turkish population. Due to the specific treatment options for this gene, which are thought to be available in the near future, it is crucial to look for SOD1 mutation in ALS patients.
Authors/Disclosures
Arman Cakar
PRESENTER 		Arman Cakar has nothing to disclose.
Hacer Durmus, MD (Department of Neurology, Istanbul Faculty of Medicine) Dr. Durmus has nothing to disclose.
No disclosure on file