212
Views
0
CrossRef citations to date
0
Altmetric
Reviews

The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients

, , , , &
Pages 16-24 | Received 13 Dec 2020, Accepted 22 Mar 2021, Published online: 05 Nov 2021

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. Nat Genet. 2001;29:166–73.
  • 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;29:160–5.
  • 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; 71:518–27.
  • Kress JA, Kühnlein P, Winter P, Ludolph AC, Kassubek J, Müller U, et al. Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. Ann Neurol. 2005;58:800–3.
  • 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; 16:1407–11.
  • Otomo A, Hadano S, Okada T, Mizumura H, Kunita R, Nishijima H, et al. ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. Hum Mol Genet. 2003; 12:1671–87.
  • Sato K, Otomo A, Ueda MT, Hiratsuka Y, Suzuki-Utsunomiya K, Sugiyama J, et al. Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function. J Biol Chem. 2018;293:17135–53.
  • Helal M, Mazaheri N, Shalbafan B, Malamiri RA, Dilaver N, Buchert R, et al. Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. Neurol Sci. 2018; 39:1917–25.
  • Lerman-Sagie T, Filiano J, Smith DW, Korson M. Infantile onset of hereditary ascending spastic paralysis with bulbar involvement. J Child Neurol. 1996;11:54–7.
  • Hentati A, Bejaoui K, Pericak-Vance MA, Hentati F, Speer MC, Hung WY, et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet. 1994;7:425–8.
  • Ben Hamida M, Hentati F, Ben HC. Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. Brain 1990;113: 347–63.
  • Gascon GG, Chavis P, Yaghmour A, Stigsby B, Shums A, Ozand P, et al. Familial childhood primary lateral sclerosis with associated gaze paresis. Neuropediatrics 1995;26:313–9.
  • 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;64:210–5.
  • Gros-Louis F, Meijer IA, Hand CK, Dubé M-P, MacGregor DL, Seni M-H, et al. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Ann Neurol. 2003;53:144–5.
  • Panzeri C, De Palma C, Martinuzzi A, Daga A, De Polo G, Bresolin N, et al. The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. Brain. 2006;129:1710–9.
  • 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 ascendinghereditary spastic paralysis. Ann Neurol. 2006; 59:976–80.
  • Herzfeld T, Wolf N, Winter P, Hackstein H, Vater D, Müller U, et al. Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A > T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP). Neurogenetics 2009;10:59–64.
  • Sztriha L, Panzeri C, Kálmánchey R, Szabó N, Endreffy E, Túri S, et al. First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement. Clin Genet. 2008;73:591–3.
  • Shirakawa K, Suzuki H, Ito M, Kono S, Uchiyama T, Ohashi T, et al. Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan. Neurology 2009;73:2124–6.
  • Mintchev N, Zamba-Papanicolaou E, Kleopa KA, Christodoulou KA. A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family. Neurology 2009;72:28–32.
  • 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; 18:235–9.
  • Luigetti M, Lattante S, Conte A, Romano A, Zollino M, Marangi G, et al. A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2013;14:470–2.
  • Flor-de-Lima F, Sampaio M, Nahavandi N, Fernandes S, Leão M. Alsin related disorders: literature review and case study with novel mutations. Case Rep Genet. 2014; 2014:691515.
  • Siddiqi S, Foo JN, Vu A, Azim S, Silver DL, Mansoor A, et al. A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias. PLoS One. 2014;9:e113258.
  • Sheerin U-M, Schneider SA, Carr L, Deuschl G, Hopfner F, Stamelou M, et al. ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology 2014;82:1065–7.
  • Wakil SM, Ramzan K, Abuthuraya R, Hagos S, Al-Dossari H, Al-Omar R, et al. Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C > T. Gene 2014;536:217–20.
  • Eker HK, Unlü SE, Al-Salmi F, Crosby AH. A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis. Eur J Med Genet. 2014;57:275–8.
  • Xie F, Cen ZD, Xiao JF, Luo W. Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis. Neurol Sci. 2015;36:1279–80.
  • Daud S, Kakar N, Goebel I, Hashmi AS, Yaqub T, Nürnberg G, et al. Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia. Amyotroph Lateral Scler Frontotemporal Degener. 2016;17:260–5.
  • Tariq H, Mukhtar S, Naz S. A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis. J Neurogenet. 2017;31:26–9.
  • Nishiyama A, Niihori T, Warita H, Izumi R, Akiyama T, Kato M, et al. Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis. Neurobiol Aging. 2017;53:194.e1–e8.
  • Hengel H, Buchert R, Sturm M, Haack TB, Schelling Y, Mahajnah M, et al. First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. Eur J Hum Genet. 2020;28:1034–43.
  • Yamanaka K, Vande Velde C, Eymard-Pierre E, Bertini E, Boespflug-Tanguy O, Cleveland DW. Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. Proc Natl Acad Sci U S A. 2003; 100:16041–6.
  • Esters H, Alexandrov K, Iakovenko A, Ivanova T, Thomä N, Rybin V, et al. Vps9, Rabex-5 and DSS4: proteins with weak but distinct nucleotide-exchange activities for Rab proteins. J Mol Biol. 2001;310:141–56.

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.