Автозомно рецесивна наследствена моторна и сетивна невропатия при мутация в SH3TC2 гена
Ключови думи:
SH3TC2 генАбстракт
Наследствените моторни и сетивни невропатии (НМСН) или още познати като болест на Charcot-Marie-Tooth (CMT) са най-честите наследствени заболявания на периферната нервна система, дължащи се на мутации в над 80 гена. НМСН при дефект в SH3TC2 гена (СМТ4С) е описана за първи път при араби от Северна Африка през 1997 г. В последствие се откриват и други пациенти от целия свят с различни мутации в същия ген, като в последните години СМТ4С се определя като една от най-честите автозомно рецесивни демиелинизиращи невропатии. Заболяването се характеризира с генотипна и фенотипна хетерогенност. Смята се, че ранни и прогресиращи костно-ставни изменения са характерен белег на заболяването.
В България са установени 7 пациенти с 6 различни генотипа, водещи до клинично изявена СМТ4С. Представяме клинични, епидемиологични и генетични данни за СМТ4С в България.
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