KEGG DISEASE: 脊髄性筋萎縮症

DISEASE: 脊髄性筋萎縮症

エントリ

H00455

名称

脊髄性筋萎縮症

下位グループ

ウェルドニッヒ・ホフマン病 (SMA1)
脊髄性筋萎縮症 II型 (SMA2)
クーゲルベルグ・ヴェランダー病 (SMA3)
脊髄性筋萎縮症 IV型 (SMA4)
X-linked SMA (SMAX) [DS:H00062]
近位成人常染色体優性遺伝性脊髄性筋萎縮症 (SMAPAD)
下肢優位型常染色体優性遺伝性脊髄性筋萎縮症 (SMALED)
乳児脊髄性筋萎縮症 (SMAJI)
進行性ミオクローヌスてんかんを伴う脊髄性筋萎縮症 (SMAPME)

概要

Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscle atrophy and paralysis. The most common form of SMA is caused by mutations of the SMN gene, that encodes the SMN protein, which regulates snRNP assembly. Four types of SMA are recognized depending on the age of onset and the severity of the disease: type I (Werdning-Hoffman), type II (intermediate), type III (Kugeleberg-Welander) and type IV (adult form). Other forms of spinal muscular atrophy are caused by mutation of other genes, some known and others not yet defined.

カテゴリ

神経変性疾患

階層分類

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
    H00455  脊髄性筋萎縮症
パスウェイに基づく疾患分類 [BR:jp08402]
Replication, repair and transcription
  nt06547  スプライソソーム
   H00455  脊髄性筋萎縮症
細胞プロセス
  nt06515  キネトコア-微小管相互作用の制御
   H00455  脊髄性筋萎縮症
  nt06541  神経細胞の細胞骨格
   H00455  脊髄性筋萎縮症
指定難病 [jp08407.html]
H00455

ネットワーク

nt06515 Regulation of kinetochore-microtubule interactions
nt06541 Cytoskeleton in neurons
nt06547 Spliceosome

病因遺伝子

(SMA1/2/3/4) SMN1 [HSA:6606] [KO:K13129]
(SMA3) SMN2 [HSA:6607] [KO:K13129]
(SMAX1) AR [HSA:367] [KO:K08557]
(SMAX2) UBA1 [HSA:7317] [KO:K03178]
(SMAX3) ATP7A [HSA:538] [KO:K17686]
(SMAPAD) VAPB [HSA:9217] [KO:K10707]
(SMALED1) DYNC1H1 [HSA:1778] [KO:K10413]
(SMALED2A/2B) BICD2 [HSA:23299] [KO:K18739]
(SMAJI) GARS1 [HSA:2617] [KO:K01880]
(SMAPME) ASAH1 [HSA:427] [KO:K12348]

治療薬

ヌシネルセンナトリウム [DR:D10791]
リスジプラム [DR:D11406]
アデノシン三リン酸二ナトリウム水和物 [DR:D02300]
オナセムノゲンアベパルボベク [DR:D11559]

It has been shown that the SMA phenotype is modified by the number of SMN2 genes and SMN2 sequence variations can also affect the disease severity.

リンク

ICD-11:

8B61

MeSH:

D009134 D014897

OMIM:

253300 253550 253400 271150 301830 300489 182980 158600 615290 618291 619042 159950

文献

PMID:20302191

著者

Stavarachi M, Apostol P, Toma M, Cimponeriu D, Gavrila L

タイトル

Spinal muscular atrophy disease: a literature review for therapeutic strategies.

雑誌

J Med Life 3:3-9 (2010)

文献

PMID:8922999 (SMA1)

著者

Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AH, Prior TW

タイトル

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

雑誌

Hum Mol Genet 5:1727-32 (1996)
DOI:10.1093/hmg/5.11.1727

文献

PMID:9158159 (SMA2 SMA3)

著者

Hahnen E, Schonling J, Rudnik-Schoneborn S, Raschke H, Zerres K, Wirth B

タイトル

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

雑誌

Hum Mol Genet 6:821-5 (1997)
DOI:10.1093/hmg/6.5.821

文献

PMID:7658877 (SMA4)

著者

Brahe C, Servidei S, Zappata S, Ricci E, Tonali P, Neri G

タイトル

Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy.

雑誌

Lancet 346:741-2 (1995)
DOI:10.1016/s0140-6736(95)91507-9

文献

PMID:19716110 (SMA3)

著者

Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT

タイトル

A positive modifier of spinal muscular atrophy in the SMN2 gene.

雑誌

Am J Hum Genet 85:408-13 (2009)
DOI:10.1016/j.ajhg.2009.08.002

文献

PMID:2062380 (SMAX1)

著者

La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH

タイトル

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

雑誌

Nature 352:77-9 (1991)
DOI:10.1038/352077a0

文献

PMID:18179898 (SMAX2)

著者

Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L

タイトル

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.

雑誌

Am J Hum Genet 82:188-93 (2008)
DOI:10.1016/j.ajhg.2007.09.009

文献

PMID:20170900 (SMAX3)

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

PMID:15372378 (SMAPAD)

著者

Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M

タイトル

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

雑誌

Am J Hum Genet 75:822-31 (2004)
DOI:10.1086/425287

文献

PMID:22459677 (SMALED1)

著者

Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH

タイトル

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.

雑誌

Neurology 78:1714-20 (2012)
DOI:10.1212/WNL.0b013e3182556c05

文献

PMID:23664116 (SMALED2A)

著者

Neveling K, Martinez-Carrera LA, Holker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schoneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B

タイトル

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

雑誌

Am J Hum Genet 92:946-54 (2013)
DOI:10.1016/j.ajhg.2013.04.011

文献

PMID:27751653 (SMALED2B)

著者

Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG

タイトル

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

雑誌

Neuromuscul Disord 26:744-748 (2016)
DOI:10.1016/j.nmd.2016.09.009

文献

PMID:32181591 (SMAJI)

著者

Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, Lotze T, Antonellis A, Xiao R, Potocki L

タイトル

GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.

雑誌

Am J Med Genet A 182:1167-1176 (2020)
DOI:10.1002/ajmg.a.61544

文献

PMID:24164096 (SMAPME)

著者

Dyment DA, Sell E, Vanstone MR, Smith AC, Garandeau D, Garcia V, Carpentier S, Le Trionnaire E, Sabourdy F, Beaulieu CL, Schwartzentruber JA, McMillan HJ, Majewski J, Bulman DE, Levade T, Boycott KM

タイトル

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

雑誌

Clin Genet 86:558-63 (2014)
DOI:10.1111/cge.12307

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