KEGG   DISEASE: Distal hereditary motor neuropathies
Entry
H00856                      Disease                                
Name
Distal hereditary motor neuropathies
  Subgroup
Distal spinal muscular atrophy (DSMA)
Description
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.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00856  Distal hereditary motor neuropathies
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Motor neuron diseases or related disorders
   8B61  Spinal muscular atrophy
    H00856  Distal hereditary motor neuropathies
Network
nt06515 Regulation of kinetochore-microtubule interactions
Gene
(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]
Comment
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).
Other DBs
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
Reference
  Authors
Rossor AM, Kalmar B, Greensmith L, Reilly MM
  Title
The distal hereditary motor neuropathies.
  Journal
J Neurol Neurosurg Psychiatry 83:6-14 (2012)
DOI:10.1136/jnnp-2011-300952
Reference
  Authors
Reilly MM, Shy ME
  Title
Diagnosis and new treatments in genetic neuropathies.
  Journal
J Neurol Neurosurg Psychiatry 80:1304-14 (2009)
DOI:10.1136/jnnp.2008.158295
Reference
PMID:15122253 (HMN2A)
  Authors
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
  Title
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
  Journal
Nat Genet 36:597-601 (2004)
DOI:10.1038/ng1328
Reference
PMID:15122254 (HMN2B)
  Authors
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
  Title
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
  Journal
Nat Genet 36:602-6 (2004)
DOI:10.1038/ng1354
Reference
PMID:20142617 (HMN2C)
  Authors
Kolb SJ, Snyder PJ, Poi EJ, Renard EA, Bartlett A, Gu S, Sutton S, Arnold WD, Freimer ML, Lawson VH, Kissel JT, Prior TW
  Title
Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach.
  Journal
Neurology 74:502-6 (2010)
DOI:10.1212/WNL.0b013e3181cef84a
Reference
PMID:24207122 (HMN2D)
  Authors
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
  Title
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.
  Journal
Am J Hum Genet 93:976-83 (2013)
DOI:10.1016/j.ajhg.2013.10.006
Reference
PMID:12690580 (HMN5A)
  Authors
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
  Title
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
  Journal
Am J Hum Genet 72:1293-9 (2003)
DOI:10.1086/375039
Reference
PMID:22703882 (HMN5B)
  Authors
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
  Title
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
  Journal
Am J Hum Genet 91:139-45 (2012)
DOI:10.1016/j.ajhg.2012.05.007
Reference
PMID:14981520 (HMN5C)
  Authors
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
  Title
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
  Journal
Nat Genet 36:271-6 (2004)
DOI:10.1038/ng1313
Reference
PMID:11528396 (HMN6/DSMA1)
  Authors
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
  Title
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
  Journal
Nat Genet 29:75-7 (2001)
DOI:10.1038/ng703
Reference
PMID:23141292 (HMN7A)
  Authors
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
  Title
Defective presynaptic choline transport underlies hereditary motor neuropathy.
  Journal
Am J Hum Genet 91:1103-7 (2012)
DOI:10.1016/j.ajhg.2012.09.019
Reference
PMID:12627231 (HMN7B)
  Authors
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
  Title
Mutant dynactin in motor neuron disease.
  Journal
Nat Genet 33:455-6 (2003)
DOI:10.1038/ng1123
Reference
PMID:20037588 (HMN8)
  Authors
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
  Title
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
  Journal
Nat Genet 42:160-4 (2010)
DOI:10.1038/ng.508
Reference
PMID:28369220 (HMN9)
  Authors
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
  Title
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
  Journal
Brain 140:1252-1266 (2017)
DOI:10.1093/brain/awx058
Reference
PMID:26462740 (HMN10)
  Authors
Capuano A, Bucciotti F, Farwell KD, Tippin Davis B, Mroske C, Hulick PJ, Weissman SM, Gao Q, Spessotto P, Colombatti A, Doliana R
  Title
Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.
  Journal
Hum Mutat 37:84-97 (2016)
DOI:10.1002/humu.22920
Reference
PMID:26078401 (DSMA2)
  Authors
Li X, Hu Z, Liu L, Xie Y, Zhan Y, Zi X, Wang J, Wu L, Xia K, Tang B, Zhang R
  Title
A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy.
  Journal
Neurology 84:2430-7 (2015)
DOI:10.1212/WNL.0000000000001680
Reference
PMID:17564964 (DSMA4)
  Authors
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
  Title
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
  Journal
Am J Hum Genet 81:67-76 (2007)
DOI:10.1086/518900
Reference
PMID:22522442 (DSMA5)
  Authors
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
  Title
A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.
  Journal
Ann Neurol 71:509-19 (2012)
DOI:10.1002/ana.22684
Reference
PMID:27066569 (DSMA6)
  Authors
Schottmann G, Seelow D, Seifert F, Morales-Gonzalez S, Gill E, von Au K, von Moers A, Stenzel W, Schuelke M
  Title
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.
  Journal
Neurol Genet 1:e32 (2015)
DOI:10.1212/NXG.0000000000000032
Reference
PMID:20170900 (DSMAX)
  Authors
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
  Title
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
  Journal
Am J Hum Genet 86:343-52 (2010)
DOI:10.1016/j.ajhg.2010.01.027

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