CMT/HMSN 4A: Hereditary motor and sensory neuropathy in type 4A

[Guest guest]

Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(5):13-16.

Hereditary motor and sensory neuropathy type 4A.

Shchagina OA, Dadali EL, Fedotov VP, Tiburkova TB, Poliakov AV.

Mediko-geneticheski & #301; nauchny & #301; tsentr RAMN, Moskva.

Abstract

The first in the Russian Federation clinical cases of patients with

autosomal-recessive type of hereditary motor and sensory neuropathy, type 4A,

(HMSN 4A) are presented. In all cases, the diagnosis has been verified using

molecular-genetic methods (DNA diagnostics).

An analysis of features of clinical manifestations was performed in patients,

aged from 5 to 34 years, with different disease duration (from 3-to 29 years).

Criteria of selection of patients for DNA diagnostics for searching mutations in

the GDAP1 gene are specified.