KEGG   DISEASE: H00455Help
Entry
H00455                      Disease                                

Name
Spinal muscular atrophy (SMA), including:
SMA type I (SMA1) / Werdning-Hoffman disease;
SMA type II (SMA2);
SMA type III (SMA3) / Kugeleberg-Welander disease;
SMA type IV (SMA4);
X-linked SMA (SMAX);
Distal SMA autosomal recessive (DSMA);
Congenital distal spinal muscular atrophy (SMAL);
SMA proximal adult autosomal dominant (SMAPAD)
Description
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.
Category
Neurodegenerative disease
BRITE hierarchy
Pathway
RNA transport
Gene
(SMA1,2,3,4) SMN1 [HSA:6606] [KO:K13129]
(SMA3) SMN2 [HSA:6607] [KO:K13129]
(SMAX1) AR [HSA:367] [KO:K08557]
(SMAX2) UBE1 [HSA:7317] [KO:K03178]
(SMAX3/DSMAX) ATP7A [HSA:538] [KO:K17686]
(DSMA1) IGHMBP2 [HSA:3508]
(DSMA4) PLEKHG5 [HSA:57449]
(DSMA5) DNAJB2 [HSA:3300] [KO:K09508]
(SMAL) TRPV4 [HSA:59341] [KO:K04973]
(SMAPAD) VAPB [HSA:9217] [KO:K10707]
Comment
About SMAX1, please refer to H00062, for detail.
Other DBs
Reference
  Authors
Stavarachi M, Apostol P, Toma M, Cimponeriu D, Gavrila L
  Title
Spinal muscular atrophy disease: a literature review for therapeutic strategies.
  Journal
J Med Life 3:3-9 (2010)
Reference
  Authors
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
  Title
Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.
  Journal
Am J Hum Genet 82:188-93 (2008)
Reference
  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)
Reference
  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)
Reference
  Authors
Amara A, Adala L, Ben Charfeddine I, Mamai O, Mili A, Lazreg TB, H'mida D, Amri F, Salem N, Boughammura L, Saad A, Gribaa M
  Title
Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.
  Journal
Eur J Paediatr Neurol (2011)
Reference
  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)
Reference
  Authors
Guenther UP, Handoko L, Laggerbauer B, Jablonka S, Chari A, Alzheimer M, Ohmer J, Plottner O, Gehring N, Sickmann A, von Au K, Schuelke M, Fischer U
  Title
IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder  distal SMA type 1 (DSMA1).
  Journal
Hum Mol Genet 18:1288-300 (2009)
Reference
  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)

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