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Genetic analysis strategy in hereditary neuropathies
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French clinicians, aiming to guide the genetic diagnosis of patients with hereditary peripheral neuropathy, have outlined in a review the clinical and neurophysiological aspects as well as the potential treatments of these diseases.
Indeed, hereditary neuropathies are a heterogeneous group of disorders affecting the motor, sensory and/or autonomic nerves, the diagnosis of which can be complex. Thus, while peripheral neuropathy is the main component of a disease such as Charcot-Marie-Tooth, it can sometimes be indicative of a multisystem disease involving the central nervous system and other organs.
Hereditary neuropathies discussed in this review include Charcot-Marie-Tooth disease, hereditary sensory and dysautonomic neuropathies, hereditary amyloidosis, hereditary metabolic diseases, neuropathies in spastic paraparesis and spinocerebellar ataxias, etc.