Hereditary polyneuropathies: molecular genetics and variability of clinical features

Hereditary peripheral neuropathies present a very heterogeneous group of peripheral nerves disorders both clinically and genetically. Neuropathies are classified according to the large peripheral nerves fiber affection in pure motor, sensory and autonomic or mixed motor, sensory and autonomic neuropathies. On the basis of their pathohistological and neurophysiological characteristics, inherited neuropathies are divided into demyelinating and axonal types. Charcot-Marie-Tooth’s disease (CMT) is one of the most common inherited neurological disorders which includes a very heterogeneous group of inherited neuropathies both clinically and genetically. Clinical features include foot deformities, development of scoliosis, and later motor handicaps or severe motor disability. CMT 1 or hereditary motor and sensory neuropathies (HSMN1) are primarily demyelinating neuropathies. CMT2 or hereditary motor and sensory neuropathies (HSMN2) are primarily axonal neuropathies. The results of molecular genetic analyses are very important for appropriate diagnosis and genetic counseling and for development of etiological therapy in the future.

Read more