家族性自律神経失調症 [DS:H01987]
先天性無痛無汗症 [DS:H01836]
遺伝性感覚性ニューロパチー (HSN)
痙性対麻痺を伴う遺伝性感覚性ニューロパチー [DS:H02380]

Verpoorten N, De Jonghe P, Timmerman V

Disease mechanisms in hereditary sensory and autonomic neuropathies.

Neurobiol Dis 21:247-55 (2006)
DOI:10.1016/j.nbd.2005.08.004

Auer-Grumbach M, Mauko B, Auer-Grumbach P, Pieber TR

Molecular genetics of hereditary sensory neuropathies.

Neuromolecular Med 8:147-58 (2006)
DOI:10.1385/NMM:8:1:147

Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Loscher W, Vondracek P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

Am J Hum Genet 87:513-22 (2010)
DOI:10.1016/j.ajhg.2010.09.010

Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nurnberg G, Nurnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hubner CA

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

Nat Genet 41:1179-81 (2009)
DOI:10.1038/ng.464

Riviere 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 synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

Am J Hum Genet 89:219-30 (2011)
DOI:10.1016/j.ajhg.2011.06.013

Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG

An SCN9A channelopathy causes congenital inability to experience pain.

Nature 444:894-8 (2006)
DOI:10.1038/nature05413

Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

Ann Neurol 71:569-72 (2012)
DOI:10.1002/ana.23524

Woods CG, Babiker MO, Horrocks I, Tolmie J, Kurth I

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

Eur J Hum Genet 23:561-3 (2015)
DOI:10.1038/ejhg.2014.166

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhuttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J

Transcriptional regulator PRDM12 is essential for human pain perception.

Nat Genet 47:803-8 (2015)
DOI:10.1038/ng.3308

Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

Am J Hum Genet 91:1065-72 (2012)
DOI:10.1016/j.ajhg.2012.09.015

Guelly C, Zhu PP, Leonardis L, Papic L, Zidar J, Schabhuttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Frohlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

Am J Hum Genet 88:99-105 (2011)
DOI:10.1016/j.ajhg.2010.12.003

Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, Smith DI, Dyck PJ

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.

Nat Genet 43:595-600 (2011)
DOI:10.1038/ng.830

Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Giesselmann S, Beil FT, Pou-Serradell A, Vilchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hubner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

Brain 137:683-92 (2014)
DOI:10.1093/brain/awt357