Abstract Details

Title Single Center Experience of SORD Neuropathy in Turkey

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P1 - Poster Session 1 (9:00 AM-5:00 PM)

Poster/Presentation
Number 393

Objective To describe the clinical characteristics of patients with sorbitol dehydrogenase (SORD) mutations.

Background SORD mutations are recently discovered as a common cause of autosomal recessive Charcot-Marie-Tooth type 2 (AR-CMT2) and distal hereditary motor neuropathy (dHMN). Understanding the phenotypical features of patients from different cohorts is essential for this potentially treatable hereditary neuropathy.

Design/Methods Herein, we evaluated the clinical and genetic features of the 6 patients from 6 unrelated families with SORD mutation at the Neuromuscular Unit, Neurology Department, Istanbul Faculty of Medicine, Istanbul University.

Results

All patients were male. The mean age of onset was 20,5 ± 13,89 (between 7 and 47 years). Lower limb weakness was the presenting symptom in all patients. All patients were born to consanguineous marriages. In only one family, two siblings were affected: one of them had a disease onset at the age of 47 with running difficulties and the younger brother’s disease onset was in the second decade. Neurological examination of all patients showed symmetric distal weakness and atrophy in the lower limbs and in two patients in the upper limbs. Deep tendon reflexes were either reduced or absent in all except one with brisk reflexes and a positive Babinski sign. Vibration sensation was diminished in three patients. Four patients had pes cavus. Nerve conduction studies showed pure motor length-dependent axonal neuropathy in all. All had the biallelic c.757delG (p.Ala253GlnfsTer27) mutation.

Conclusions All patients showed quite an uniform phenotype, on the other hand remarkable clinical features, such as pyramidal signs and later disease onset, were observed in our cohort. Functional studies suggest that SORD neuropathy has implications with diabetes and might be a treatable condition. Therefore, screening for SORD mutations is crucial, especially in countries where consanguineous marriages are common.

Authors/Disclosures
Arman Cakar PRESENTER	Arman Cakar has nothing to disclose.
Ayse Candayan	Ayse Candayan has nothing to disclose.
Hacer Durmus, MD (Department of Neurology, Istanbul Faculty of Medicine)	Dr. Durmus has nothing to disclose.
Esra Battaloglu	Esra Battaloglu has nothing to disclose.
Fatma Yesim Parman, MD (Istanbul Üniversitesi Tip Fakültesi)	Dr. Parman has nothing to disclose.

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