Abstract Details

Title Evaluating the Genetic Subtypes and Phenotypic Features of Charcot-Marie-Tooth Disease in Türkiye

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P12 - Poster Session 12 (11:45 AM-12:45 PM)

Poster/Presentation
Number 11-025

Objective To describe the clinical and genetic characteristics of patients with Charcot-Marie-Tooth disease (CMT) in Turkey.

Background CMT is the most common inherited neuromuscular disorder. Although the genetic landscape of the disease has evolved in recent years, current knowledge chiefly comes from Europe and North America.

Design/Methods We evaluated the clinical and genetic features of 327 patients from 280 families with CMT who were followed at the Neuromuscular Unit of the Istanbul Faculty of Medicine, Istanbul University.

Results The mean age of onset was 13.38 ± 12.45 years (range 1-57), and 159 patients were female (48.7%). Patients with autosomal recessive CMT forms have an early disease onset (mean: 6.15 ± 6.20, range 1-29 years). Lower limb weakness or skeletal deformities were the most frequent presenting complaints. Cranial nerve involvement and other unusual features were more frequent in autosomal recessive forms.The most frequent subtype was CMT1 (138 families), followed by CMT4 (49 families), CMT-I (33 families), AR-CMT2 (31 families), and CMT2 (29 families). The most frequently mutated genes were PMP22, GJB1, MFN2, SH3TC2, and GDAP1, respectively. On the other hand, only ten families were identified with MPZ variants. Among 85 families with recessive subtypes, causative variants were identified in 22 different genes. We identified pathogenic or likely pathogenic variants in genes unusual for a predominantly CMT phenotype, including SPG7, NDUFS6, FXN, and ATM.

Conclusions Our study provided an update on the genetic landscape of CMT in Türkiye. We expanded the genetic and phenotypic spectrum by identifying novel variants and describing new clinical features. Compared to previous studies, the frequency of rare autosomal recessive subtypes was significantly higher in our cohort.

Authors/Disclosures
Fatma Yesim Parman, MD (Istanbul Üniversitesi Tip Fakültesi) PRESENTER	Dr. Parman has nothing to disclose.
Arman Cakar (Istanbul Üni. Çapa)	No disclosure on file
Ayse Candayan	Ayse Candayan has nothing to disclose.
GULANDAM BAGIROVA, PhD candidate	Mrs. BAGIROVA has nothing to disclose.
Zehra O. Uyguner, PhD	Prof. Uyguner has nothing to disclose.
Serdar Ceylaner	Serdar Ceylaner 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.

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