KEGG   DISEASE: 遠位遺伝性運動ニューロパチー
エントリ  
H00856                                                             
名称    
遠位遺伝性運動ニューロパチー
  下位グループ
遠位脊髄性筋萎縮症 (DSMA)
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
階層分類  
ヒト疾患 [BR:jp08402]
 神経系疾患
  神経変性疾患
   H00856  遠位遺伝性運動ニューロパチー
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  運動ニューロン疾患または関連症
   8B61  脊髄性筋萎縮症
    H00856  遠位遺伝性運動ニューロパチー
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) GARS [HSA:2617] [KO:K01880]
(HMN5A) BSCL2 [HSA:26580] [KO:K19365]
(HMN5B) REEP1 [HSA:65055] [KO:K17338]
(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]
(DSMA2) SIGMAR1 [HSA:10280] [KO:K20719]
(DSMA4) PLEKHG5 [HSA:57449] [KO:K19464]
(DSMA5) DNAJB2 [HSA:3300] [KO:K09508]
(DSMAX) ATP7A [HSA:538] [KO:K17686]
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 604320 158580 607641 600175 617721 605726 611067 614881 300489
文献    
  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
文献    
  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
文献    
  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
文献    
  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
文献    
  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
文献    
  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
文献    
  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
文献    
  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
文献    
  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
文献    
  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

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