Hereditary sensory and autonomic neuropathies

List of Abbreviations HSAN, Hereditary sensory and autonomic neuropathies HSN, Hereditary sensory neuropathies NCS, Nerve conduction studies QST, Quantitative somatosensory testing... 

Lafreniere RG, Mac Donald ML, Dube MP, Mac Farlane J, O Driscoll M, et al. 2004. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates. Am J Hum Genet 74 1064-1073. 

Verhoeven K, Timmerman V, Mauko B, Pieber TR, De Jonghe P, et al. 2006. Recent advances in hereditary sensory and autonomic neuropathies. Curr Opin Neurol 124 271-276. 

Mutations in SPTLCl are associated with hereditary sensory and autonomic neuropathy type I (J.L. Dawkins, 2001 K. Bejaoui, 2001). The mutations occur at sites that... 

An hereditary amyloid neuropathy should also be considered in an older patient with a sensory greater than motor polyneuropathy, especially if there is also cardiac involvement (e.g., cardiomyopathy) and/or autonomic dysfunction. There could be an autosomal dominant genetic pattern of similarly affected persons—e.g., if the amyloid is caused by the TTR-Met30 mutation of transthyretin (TTR), that is easily tested for. As with other sensory more than motor polyneuropathies, all treatable causes such as dysim-mune, anti-MAG, and diabetes-2, should be sought. A soft-tissue radionuclide scan, which we introduced... 

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