Abstract Details

Title Autosomal Recessive Charcot-Marie-Tooth Disease in Turkey

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P3 - Poster Session 3 (5:30 PM-6:30 PM)

Poster/Presentation
Number 12-034

Objective To investigate the clinical, electrophysiological and genetic features of the patients with autosomal recessive Charcot-Marie-Tooth (CMT-4) disease in Turkey.

Background CMT is the most common hereditary neuropathy with a prevalence of 1/2500. Main clinical features of the disease are distal weakness and atrophy, predominantly in lower extremities with skeletal deformities such as pes cavus, hammer toes and kyphoscoliosis and distal sensory loss. Autosomal recessive forms of CMT are rare, however, they can be observed frequently in countries with high consanguineous marriage rates. They tend to be more severe and have an earlier onset comparing to the dominant forms.

Design/Methods Herein, we retrospectively evaluated clinical, electrophysiological and genetic findings of 40 patients from 33 unrelated families diagnosed with CMT-4 at the Department of Neurology, Istanbul Faculty of Medicine between 1990 and 2018.

Results There were 21 female and 19 male patients. Mean age of onset was 7.2±7.7 (ranges 1-35) years. Mean disease duration was 24.7±15.3 years. All of our patients presented with symptoms related to progressive distal weakness and atrophy in lower extremities. Most common skeletal deformity was pes cavus (27/40), followed by hammer toes (16/40), kyphoscoliosis (16/40) and pes planus (7/40), respectively. Four patients had tremor in the hands. Motor deficits were more pronounced in distal parts of lower extremities. Areflexia was evident in 24 patients and sensory ataxia was observed in 11. Seven patients had hypophonia suggesting vocal cord paralysis. Mean median motor velocity was 14.8±13.8 (ranges 0-50.0). Lumbar puncture was performed in 7 patients and CSF protein levels were elevated in 4. Mutations were identified in 8 different genes (SH3TC2/KIAA1985, GDAP1, PRX, NDRG1, FDG4, MTMR2, MTMR13/SBF2 and HK1). Most common mutated gene was SH3TC2/KIAA1985 (12 patients). Thirty-four patients were descendants from consanguineous marriages.

Conclusions

Our data indicates a marked genotypic and phenotypic heterogeneity in patients with CMT-4 in Turkey.

Authors/Disclosures
Arman Cakar PRESENTER	Arman Cakar has nothing to disclose.
Ayse Candayan	Ayse Candayan has nothing to disclose.
	No disclosure on file
Gulshan Yunisova, MD (Koç University Hospital, Muscle Disease Center)	Dr. Yunisova has nothing to disclose.
	No disclosure on file
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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