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hereditary sensory and autonomic neuropathies


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A heterogeneous group of disorders associated with sensory dysfunction. Hereditary sensory neuropathy type I (HSAN1 ) is caused by mutation in the gene that encodes serine palmitoyltransferase (EC 2.3.1.50), the key enzyme in sphingolipid biosynthesis. HSAN2 is caused by mutation in the HSN2 gene that encodes a 434-aa protein of uncertain function. HSAN3 (see dysautonomia) is caused by mutation in the IκB kinase-associated protein. HSAN4 is caused by mutation in a neurotrophin receptor. HSAN5 is caused by mutation in the nerve growth factor β subunit. Adult-onset HSAN with anosmia is believed to be a distinct form.

Subjects: Medicine and Health.


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