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Research Article

Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression

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Pages 228-230 | Received 22 Dec 2010, Accepted 23 Feb 2011, Published online: 28 Mar 2011

References

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  • Zhao ZH, Chen WZ, Wu ZY, Wang N, Zhao GX, Chen WJ, . A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2009;10:118–22.
  • Hirano M, Quinzii CM, Mitsumoto H, Hays AP, Kirk Roberts J, Richard P, . Senataxin mutations and amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011; 12:223–7.
  • Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, . A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nature Genet. 2001;29:166–73.
  • Hentati A, Ouahchi K, Pericak-Vance MA, Nijhawan D, Ahmad A, Yang Y, . Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics. 1998;2:55–60.
  • Bäumer D, Hilton D, Paine SM, Turner MR, Lowe J, Talbot K, . Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology. 2010;75:611–8.

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