The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease (original) (raw)

Charcot-Marie-Tooth disease is the most frequently occurring inherited peripheral neuropathy. CMT is classified in two main groups 1,2 : (i) demyelinating CMT, associated with reduced nerve conduction velocities and segmental de-and remyelination and onion bulb formations, and (ii) axonal CMT, characterized by axonal degeneration without demyelinating lesions and the presence of clusters of regeneration. We diagnosed an axonal CMT phenotype associated with hoarse voice and vocal cord paresis in two small families, LF20 and LF249, and one large inbred family, LF38, with Spanish ancestry. The disease segregates as an autosomal recessive trait. The clinical picture is characterized by onset at childhood with weakness and foot and hand wasting, leading to disability at the end of the first decade 3. Sensory-nerve action potentials were decreased or absent in all affected individuals. In families LF20 and LF249, we did not register median, ulnar, and peroneal compound motor action potentials (CMAPs). However, we obtained The gene encoding gangliosideinduced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

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