Article

Hereditary neuropathies are the most common inherited neuromuscular diseases.
Charcot-Marie-Tooth (CMT) disease represents the most common form with an average
prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and
with the advances of the latest generation sequencing, more than 80 genes have
been identified. Although the common clinical phenotype comprises a progressive
distal muscle weakness and sensory loss, foot deformities and decreased or absent
tendon reflexes, clinical and electrophysiological phenotypes exhibit great
variability. Moreover, atypical phenotypes are arising, overlapping with spastic
paraplegia, hereditary sensory neuropathies or amyotrophic lateral sclerosis. The
causative genes are involved in various biological processes such as myelin
development and maintenance, biosynthesis and degradation of proteins, neuronal
structural maintenance, axonal transport, endocytosis, membrane dynamics,
ion-channel function and the mitochondrial network. An accurate genetic diagnosis
is important for appropriate genetic counselling and treatment options.
Therapeutic advances, particularly small interfering RNA therapy, are encouraging
in hereditary transthyretin amyloid neuropathy.
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Langue : ANGLAIS