Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T

Gene

Volumn 536, Issue 1, 2014, Pages 217-220

  Wakil, Salma M ^a   Ramzan, Khushnooda ^a   Abuthuraya, Rula ^a   Hagos, Samya ^a   Al Dossari, Haya ^a   Al Omar, Rana ^a   Murad, Hatem ^a   Chedrawi, Aziza ^a   Al Hassnan, Zuhair N ^a   Finsterer, Josef ^b   Bohlega, Saeed ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

Author keywords

Alsin 2 gene; Amyotrophic lateral sclerosis; Hereditary spastic paraplegia; Homozygosity; Motor neuron; Mutation

Indexed keywords

ALSIN 2; AMYOTROPHIC LATERAL SCLEROSIS 2; GUANINE NUCLEOTIDE EXCHANGE FACTOR; PLECKSTRIN; RHO GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; GENETIC DISORDER; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; MALE; PRIORITY JOURNAL; SPASTICITY;

EID: 84891831394     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.11.043     Document Type: Article

References (21)

1. Carr I.M., et al. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families. Hum. Mutat. 2006, 27:1041-1046.
2. Dasso M. Running on Ran: nuclear transport and the mitotic spindle. Cell 2001, 104:321-324.
3. Devon R.S., 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.
4. Eymard-Pierre 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.
5. Eymard-Pierre E., et al. Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis. Ann. Neurol. 2006, 59:976-980.
6. Gros-Louis F., et al. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Ann. Neurol. 2003, 53:144-145.
7. Hadano S., et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat. Genet. 2001, 29:166-173.
8. Herzfeld T., 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.
9. Khajavi M., Inoue K., Lupski J.R. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur. J. Hum. Genet. 2006, 14:1074-1081.
10. Kuzmiak H.A., Maquat L.E. Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol. Med. 2006, 12:306-316.
11. Millecamps S., et al. Alsin is partially associated with centrosome in human cells. Biochem. Biophys. Acta 2005, 1745:84-100.
12. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988, 16:1215.
13. Otomo A., et al. ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. Hum. Mol. Genet. 2003, 12:1671-1687.
14. Otomo A., et al. Defective relocalization of ALS2/alsin missense mutants to Rac1-induced macropinosomes accounts for loss of their cellular function and leads to disturbed amphisome formation. FEBS Lett. 2011, 585:730-736.
15. Pringle C.E., et al. Primary lateral sclerosis: clinical features, neuropathology and diagnostic criteria. Brian 1992, 115:495-520.
16. Schwarz J.M., et al. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 2010, 7:575-576.
17. Sztriha L., et al. First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement. Clin. Genet. 2008, 73:591-593.
18. Verschuuren-Bemelmans C.C., et al. 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.
19. Yamanaka K., et al. Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. Proc. Natl. Acad. Sci. U. S. A. 2003, 100:16041-16046.
20. Yang Y., 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.
21. Zerial M., McBride H. Rab proteins as membrane organizers. Nat. Rev. Mol. Cell Biol. 2001, 2:107-117.