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Exp Neurol. 2013 Aug;246:14-25. doi: 10.1016/j.expneurol.2012.01.010. Epub 2012 Jan 18.

Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.

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Peripheral Neuropathy Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium.


In this review we focus on Charcot-Marie-Tooth (CMT) neuropathies and hereditary spastic paraplegias (HSPs). Although these diseases differ in whether they primarily affect the peripheral or central nervous system, both are genetically determined, progressive, long axonopathies that affect motor and sensory pathways. This commonality suggests that there might be similarities in the molecular pathology underlying these conditions, and here we compare the molecular genetics and cellular pathology of the two groups.


AD; AR; Axon degeneration; CMAP; CMT; CNS; Charcot–Marie–Tooth; ER; HMN; HMSN; HNPP; HSAN; HSP; Hereditary neuropathy; Hereditary spastic paraplegia; NCV; PI; PNS; SNAP; autosomal dominant; autosomal recessive; central nervous system; compound muscle action potentials; endoplasmic reticulum; hereditary motor and sensory neuropathy; hereditary motor neuropathy; hereditary neuropathy with liability to pressure palsies; hereditary sensory and autonomic neuropathy; hereditary spastic paraplegia; nerve conduction velocity; peripheral nervous system; phosphoinositides; sensory nerve action potentials

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