Brain involvement in Charcot–Marie–Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation


Charcot–Marie–Tooth disease (CMT) is the most frequent inherited neuropathy. To date, more than 80 genes are known to cause CMT [1]. CMT is characterized by distal predominant weakness and muscle atrophy, loss of deep tendon reflexes, sensory loss, and foot deformities [1]. Although CMT is considered a disorder of the peripheral nervous system, some forms of CMT are associated with central nervous system (CNS) abnormalities [2–9]. Mutations of the GDAP1 gene cause demyelinating [10] and axonal forms of CMT [11].


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