Hereditary sensory neuropathies.
The hereditary sensory neuropathies, also known as the hereditary sensory and autonomic neuropathies, are a clinically and genetically heterogeneous group of disorders. As they are not as common as Charcot-Marie-Tooth disease, they do not receive the same level of attention, but there have been major advances in the identification of the causative genes in the past decade. Certain forms of hereditary sensory and autonomic neuropathy, especially hereditary sensory and autonomic neuropathy type I, which has minimal autonomic involvement and is more accurately termed hereditary sensory neuropathy type I, can present in a very similar fashion to certain forms of Charcot-Marie-Tooth disease (Charcot-Marie-Tooth type 2B, see below), and therefore it is important that clinicians who regularly manage patients with neuropathy are familiar with the latest developments in the hereditary sensory and autonomic neuropathies. This review will concentrate on the recent genetic advances in hereditary sensory and autonomic neuropathy, and especially on those forms that overlap clinically with Charcot-Marie-Tooth disease, hence the title of the review 'Hereditary sensory neuropathies' rather than hereditary sensory and autonomic neuropathies.
Houlden
Henry
H
Blake
Julian
J
Reilly
Mary M
MM
D000217:Acyltransferases / Q000235:genetics; D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008040:Genetic Linkage; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000145:classification* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D051102:Serine C-Palmitoyltransferase
D000217:Acyltransferases; C487784:SPTLC1 protein, human; D051102:Serine C-Palmitoyltransferase