| H00856 | |
| H番号 | H00856 |
| 名称 | 遠位遺伝性運動ニューロパチー |
| 概要 | Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT) [DS:H00264] and with juvenile forms of amyotrophic lateral sclerosis [DS:H00058] and hereditary spastic paraplegia [DS:H00266]. The causative genes with autosomal dominant, recessive, and X-linked patterns of inheritance have implicated proteins with diverse functions. Distal HMN are classified into phenotypic subtypes according to age at onset, mode of inheritance, and presence of additional features. |
| カテゴリ | 神経系疾患 |
| ネットワーク | nt06515(H00856) Regulation of kinetochore-microtubule interactions |
| 病因遺伝子 | (HMN2A) HSPB8 [HSA:26353] [KO:K08879] (HMN2B) HSPB1 [HSA:3315] [KO:K04455] (HMN2C) HSPB3 [HSA:8988] [KO:K09544] (HMN2D) FBXO38 [HSA:81545] [KO:K10313] (HMN5A) GARS1 [HSA:2617] [KO:K01880] (HMN5B/DSMA6) REEP1 [HSA:65055] [KO:K17338] (HMN5C) BSCL2 [HSA:26580] [KO:K19365] (HMN6/DSMA1) IGHMBP2 [HSA:3508] [KO:K19036] (HMN7A) SLC5A7 [HSA:60482] [KO:K14387] (HMN7B) DCTN1 [HSA:1639] [KO:K04648] (HMN8) TRPV4 [HSA:59341] [KO:K04973] (HMN9) WARS1 [HSA:7453] [KO:K01867] (HMN10) EMILIN1 [HSA:11117] [KO:K24246] (DSMA2) SIGMAR1 [HSA:10280] [KO:K20719] (DSMA4) PLEKHG5 [HSA:57449] [KO:K19464] (DSMA5) DNAJB2 [HSA:3300] [KO:K09508] (DSMAX) ATP7A [HSA:538] [KO:K17686] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Autosomal dominant inheritance include distal HMN1 and 2, characterized by juvenile and adult onset, respectively; HMN5, characterized by upper limb involvement; HMN7, with vocal cord paralysis; and HMN8. HMN has also been referred to as distal spinal muscular atrophy (DSMA). DSMA here refers to the autosomal recessive forms of HMN. See also H00455 Spinal muscular atrophy (SMA). |
| リンク | ICD-11: 8B61.4 ICD-10: G12.1 G12.2 MeSH: D009134 OMIM: 182960 158590 608634 613376 615575 600794 614751 619112 604320 158580 607641 600175 617721 620080 605726 611067 614881 620011 300489 |
| 文献 | PMID:22028385 著者 Rossor AM, Kalmar B, Greensmith L, Reilly MM タイトル The distal hereditary motor neuropathies. 雑誌 J Neurol Neurosurg Psychiatry 83:6-14 (2012) DOI:10.1136/jnnp-2011-300952 PMID:19917815 著者 Reilly MM, Shy ME タイトル Diagnosis and new treatments in genetic neuropathies. 雑誌 J Neurol Neurosurg Psychiatry 80:1304-14 (2009) DOI:10.1136/jnnp.2008.158295 PMID:15122253 (HMN2A) 著者 Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, Kremensky I, Van Den Bosch L, Robberecht W, Van Vandekerckhove J, Van Broeckhoven C, Gettemans J, De Jonghe P, Timmerman V タイトル Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. 雑誌 Nat Genet 36:597-601 (2004) DOI:10.1038/ng1328 PMID:15122254 (HMN2B) 著者 Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V タイトル Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. 雑誌 Nat Genet 36:602-6 (2004) DOI:10.1038/ng1354 PMID:20142617 (HMN2C) 著者 Kolb SJ, Snyder PJ, Poi EJ, Renard EA, Bartlett A, Gu S, Sutton S, Arnold WD, Freimer ML, Lawson VH, Kissel JT, Prior TW タイトル Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. 雑誌 Neurology 74:502-6 (2010) DOI:10.1212/WNL.0b013e3181cef84a PMID:24207122 (HMN2D) 著者 Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Zuchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H タイトル A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. 雑誌 Am J Hum Genet 93:976-83 (2013) DOI:10.1016/j.ajhg.2013.10.006 PMID:12690580 (HMN5A) 著者 Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED タイトル Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. 雑誌 Am J Hum Genet 72:1293-9 (2003) DOI:10.1086/375039 PMID:22703882 (HMN5B) 著者 Beetz C, Pieber TR, Hertel N, Schabhuttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M タイトル Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 雑誌 Am J Hum Genet 91:139-45 (2012) DOI:10.1016/j.ajhg.2012.05.007 PMID:14981520 (HMN5C) 著者 Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K タイトル Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 雑誌 Nat Genet 36:271-6 (2004) DOI:10.1038/ng1313 PMID:11528396 (HMN6/DSMA1) 著者 Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schoneborn S, Zerres K, Hubner C タイトル Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. 雑誌 Nat Genet 29:75-7 (2001) DOI:10.1038/ng703 PMID:23141292 (HMN7A) 著者 Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH タイトル Defective presynaptic choline transport underlies hereditary motor neuropathy. 雑誌 Am J Hum Genet 91:1103-7 (2012) DOI:10.1016/j.ajhg.2012.09.019 PMID:12627231 (HMN7B) 著者 Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH Jr, Ludlow CL, Fischbeck KH タイトル Mutant dynactin in motor neuron disease. 雑誌 Nat Genet 33:455-6 (2003) DOI:10.1038/ng1123 PMID:20037588 (HMN8) 著者 Auer-Grumbach M, Olschewski A, Papic L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Frohlich E, Balint Z, Tang B, Strohmaier H, Lochmuller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C タイトル Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. 雑誌 Nat Genet 42:160-4 (2010) DOI:10.1038/ng.508 PMID:28369220 (HMN9) 著者 Tsai PC, Soong BW, Mademan I, Huang YH, Liu CR, Hsiao CT, Wu HT, Liu TT, Liu YT, Tseng YT, Lin KP, Yang UC, Chung KW, Choi BO, Nicholson GA, Kennerson ML, Chan CC, De Jonghe P, Cheng TH, Liao YC, Zuchner S, Baets J, Lee YC タイトル A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. 雑誌 Brain 140:1252-1266 (2017) DOI:10.1093/brain/awx058 PMID:26462740 (HMN10) 著者 Capuano A, Bucciotti F, Farwell KD, Tippin Davis B, Mroske C, Hulick PJ, Weissman SM, Gao Q, Spessotto P, Colombatti A, Doliana R タイトル Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease. 雑誌 Hum Mutat 37:84-97 (2016) DOI:10.1002/humu.22920 PMID:26078401 (DSMA2) 著者 Li X, Hu Z, Liu L, Xie Y, Zhan Y, Zi X, Wang J, Wu L, Xia K, Tang B, Zhang R タイトル A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. 雑誌 Neurology 84:2430-7 (2015) DOI:10.1212/WNL.0000000000001680 PMID:17564964 (DSMA4) 著者 Maystadt I, Rezsohazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C タイトル The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. 雑誌 Am J Hum Genet 81:67-76 (2007) DOI:10.1086/518900 PMID:22522442 (DSMA5) 著者 Blumen SC, Astord S, Robin V, Vignaud L, Toumi N, Cieslik A, Achiron A, Carasso RL, Gurevich M, Braverman I, Blumen N, Munich A, Barkats M, Viollet L タイトル A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. 雑誌 Ann Neurol 71:509-19 (2012) DOI:10.1002/ana.22684 PMID:27066569 (DSMA6) 著者 Schottmann G, Seelow D, Seifert F, Morales-Gonzalez S, Gill E, von Au K, von Moers A, Stenzel W, Schuelke M タイトル Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy. 雑誌 Neurol Genet 1:e32 (2015) DOI:10.1212/NXG.0000000000000032 PMID:20170900 (DSMAX) 著者 Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY タイトル Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 雑誌 Am J Hum Genet 86:343-52 (2010) DOI:10.1016/j.ajhg.2010.01.027 |