Hereditary sensory and autonomic neuropathy

Definition:

Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous group of disorders of low prevalence. They are characterized by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Autonomic features vary between different subgroups.

References:

[1]. Annelies Rotthier, et al. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Am J Hum Genet. 2010 Oct 8;87(4):513-22. [Content Brief]

[2]. Christian Guelly, et al. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet. 2011 Jan 7;88(1):99-105. [Content Brief]

[3]. Christopher Geoffrey Woods, et al. The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. Eur J Hum Genet. 2015 May;23(5):561-3. [Content Brief]

[4]. Christopher J Klein, et al. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet. 2011 Jun;43(6):595-600. [Content Brief]

[5]. Ingo Kurth, et al. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet. 2009 Nov;41(11):1179-81. [Content Brief]

[6]. James J Cox, et al. An SCN9A channelopathy causes congenital inability to experience pain. Nature. 2006 Dec 14;444(7121):894-8. [Content Brief]

[7]. Jean-Baptiste Rivière, et al. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet. 2011 Aug 12;89(2):219-30. [Content Brief]

[8]. Michaela Auer-Grumbach, et al. Molecular genetics of hereditary sensory neuropathies. Neuromolecular Med. 2006;8(1-2):147-58. [Content Brief]

[9]. Nathalie Verpoorten, et al. Disease mechanisms in hereditary sensory and autonomic neuropathies. Neurobiol Dis. 2006 Feb;21(2):247-55. [Content Brief]

[10]. Simon Edvardson, et al. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol. 2012 Apr;71(4):569-72. [Content Brief]

[11]. Uwe Kornak, et al. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain. 2014 Mar;137(Pt 3):683-92. [Content Brief]

[12]. Ya-Chun Chen, et al. Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet. 2015 Jul;47(7):803-8. [Content Brief]

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