Clinical and genetic characteristcs of hereditary motor and sensory neuropathy type IIA

Abstract

In this study, clinical manifestations of hereditary motor andsensory neuropathy type IIA (HMSN IIA, orCharcotMarieTooth disease type 2A) were analyzed in 22patients with the disease caused by different mutations of theMFN2 gene. Molecular genetic analysis showed that in theexamined cohort of Russian families with axonal form of hereditary motor and sensory neuropathy, HMSN IIA accounted for17% cases. Eighteen from 22 patients under observation weremembers of three large families with the disease segregating intwo or more generations, which enabled us to determine thescope of clinical polymorphism of HMSN IIA, as well as toassess intra and interfamilial variability of clinical features andfollow up the dynamics of clinical phenotype formation uponthe disease progression.

Keywords

• hereditary motor and sensory neuropathy
• axonal type
• mitofusin 2
• clinical and genetic characteristics