HSAN2

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Peter Tang	+ 741 word(s)	741	2020-12-15 07:26:50

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-ii

Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch to the brain. These sensations are impaired in people with HSAN2. In some affected people, the condition may also cause mild abnormalities of the autonomic neurons, which control involuntary body functions such as heart rate, digestion, and breathing. The sensory and autonomic neurons are part of the body's peripheral nervous system, which comprises the nerves outside the brain and spinal cord. HSAN2 is considered a form of peripheral neuropathy.

genetic conditions

References

Axelrod FB, Gold-von Simson G. Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet J Rare Dis. 2007 Oct 3;2:39. Review.
Davidson G, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G,Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M. Frequency of mutations inthe genes associated with hereditary sensory and autonomic neuropathy in a UKcohort. J Neurol. 2012 Aug;259(8):1673-85.
Huang CL, Kuo E. Mechanisms of disease: WNK-ing at the mechanism ofsalt-sensitive hypertension. Nat Clin Pract Nephrol. 2007 Nov;3(11):623-30.Review.
Khaminets A, Heinrich T, Mari M, Grumati P, Huebner AK, Akutsu M, Liebmann L, Stolz A, Nietzsche S, Koch N, Mauthe M, Katona I, Qualmann B, Weis J, Reggiori F,Kurth I, Hübner CA, Dikic I. Regulation of endoplasmic reticulum turnover byselective autophagy. Nature. 2015 Jun 18;522(7556):354-8. doi:10.1038/nature14498.
Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nürnberg G, Nürnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hübner CA. Mutations in FAM134B, encoding a newlyidentified Golgi protein, cause severe sensory and autonomic neuropathy. NatGenet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464.
Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B,Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J,Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R,Pryse-Phillips W, Goldberg YP, Younghusband HB, Hayden MR, Sherrington R, RouleauGA, Samuels ME. 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. 2004 May;74(5):1064-73.
Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM. Mutation in FAM134B causing severe hereditary sensory neuropathy. J Neurol Neurosurg Psychiatry. 2012Jan;83(1):119-20. doi: 10.1136/jnnp.2010.228965.
Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J,Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J,Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA. KIF1A, an axonal transporter of synapticvesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013.
Shekarabi M, Girard N, Rivière JB, Dion P, Houle M, Toulouse A, Lafrenière RG,Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M, RouleauGA. Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest. 2008 Jul;118(7):2496-505. doi:10.1172/JCI34088.
Verpoorten N, De Jonghe P, Timmerman V. Disease mechanisms in hereditarysensory and autonomic neuropathies. Neurobiol Dis. 2006 Feb;21(2):247-55.
Yuan J, Matsuura E, Higuchi Y, Hashiguchi A, Nakamura T, Nozuma S, Sakiyama Y,Yoshimura A, Izumo S, Takashima H. Hereditary sensory and autonomic neuropathytype IID caused by an SCN9A mutation. Neurology. 2013 Apr 30;80(18):1641-9. doi: 10.1212/WNL.0b013e3182904fdd.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

Subjects: Genetics & Heredity

Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Peter Tang

View Times: 1.3K

Entry Collection: MedlinePlus

Update Date: 04 Jan 2021

Table of Contents

Video Upload Options

References