325
Views
10
CrossRef citations to date
0
Altmetric
Research Article

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia

, , , , , , , , , , , & show all
Pages 260-265 | Received 13 Jul 2015, Accepted 15 Oct 2015, Published online: 11 Jan 2016

References

  • Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nature Genet. 2001;29:166–173.
  • Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001;29:160–165.
  • Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, et al. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet 2002;71:518–527.
  • Gros-Louis F, Meijer IA, Hand CK, Dubé MP, MacGregor DL, Seni MH, et al. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Ann Neurol 2003;53:144–145.
  • Pringle CE, Hudson AJ, Munoz DG, Kiernan JA, Brown WF, Ebers GC. Primary lateral sclerosis, clinical features, neuropathology and diagnostic criteria. Brain 1992;115:495–520.
  • Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM, et al. Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 2003;60:674–682.
  • Racis L, Tessa A, Pugliatti M, Storti E, Agnetti V, Santorelli FM. Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review. Eur J Paediatr Neurol 2014;18:235–239.
  • Gros-Louis F, Gaspar C, Rouleau GA. Genetics of familial and sporadic amyotrophic lateral sclerosis. Biochim Biophys Acta 2006;1762:956–972.
  • Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, et al. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet 2011;88:127–137.
  • Eymard-Pierre E, Yamanaka K, Haeussler M, Kress W, Gauthier-Barichard F, Combes P, et al. Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis. Ann Neurol 2006;59:976–980.
  • Devon RS, Schwab C, Topp JD, Orban PC, Yang YZ, Pape TD, et al. Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood. Neurobiol Dis 2005;18:243–257.
  • Devon RS, Helm JR, Rouleau GA, Leitner Y, Lerman-Sagie T, Lev D, et al. The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. Clin Genet 2003;64:210–215.
  • Verschuuren-Bemelmans CC, Winter P, Sival DA, Elting JW, Brouwer OF, Müller U. Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe. Eur J Hum Genet. 2008;16:1407–1411.
  • Wakil SM, Ramzan K, Abuthuraya R, Hagos S, Al-Dossari H, Al-Omar R, Murad H, Chedrawi A, Al-Hassnan ZN, Finsterer J, Bohlega S. Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C > T. Gene. 2014;536:217–220.
  • Sztriha L, Panzeri C, Kálmánchey R, Szabó N, Endreffy E, Túri S, Baschirotto C, Bresolin N, Vekerdy Z, Bassi MT. First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement. Clin Genet. 2008;73:591–593.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.