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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity
American Journal of Human Genetics, Volume 92, No. 2, Year 2013
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Description
Autosomal-recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders with more than 20 different forms currently recognized, many of which are also associated with increased tone and some of which have limb spasticity. Gaucher disease is a lysosomal storage disease resulting from a defect in the enzyme acid β-glucosidase 1. β-glucosidase 2 is an enzyme with similar glucosylceramidase activity but to date has not been associated with a monogenic disorder. We studied four unrelated consanguineous families of Tunisian decent diagnosed with cerebellar ataxia of unknown origin. We performed homozygosity mapping and whole-exome sequencing in an attempt to identify the genetic origin of their disorder. We were able to identify mutations responsible for autosomal-recessive ataxia in these families within the gene encoding β-glucosidase 2, GBA2. Two nonsense mutations (c.363C>A [p.Tyr121] and c.1018C>T [p.Arg340]) and a substitution (c.2618G>A [p.Arg873His]) were identified, probably resulting in nonfunctional enzyme. This study suggests GBA2 mutations are a cause of recessive spastic ataxia and responsible for a form of glucosylceramide storage disease in humans. © 2013 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3567281/bin/mmc1.pdf
Authors & Co-Authors
Hammer, Monia Benhamed
United States, Bethesda
National Institute on Aging Nia
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Eleuch-Fayache, Ghada
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Schottlaender, Lucía V.
United Kingdom, London
National Hospital for Neurology and Neurosurgery
Nehdi, Houda
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Gibbs, J. Raphael
United States, Bethesda
National Institute on Aging Nia
United Kingdom, London
Reta Lila Weston Institute of Neurological Studies
Arepalli, Sampath K.
United States, Bethesda
National Institute on Aging Nia
Chong, Sean B.
United States, Bethesda
National Institute on Aging Nia
Hernandez, Dena G.
United States, Bethesda
National Institute on Aging Nia
United Kingdom, London
Reta Lila Weston Institute of Neurological Studies
Sailer, Anna
United Kingdom, London
National Hospital for Neurology and Neurosurgery
Liu, Guoxiang
United States, Bethesda
National Institute on Aging Nia
Mistry, Pramod Kumar
United States, New Haven
Yale School of Medicine
Cai, Huaibin
United States, Bethesda
National Institute on Aging Nia
Shrader, Ginamarie
United States, Bethesda
National Institute on Aging Nia
Sassi, Celeste
United States, Bethesda
National Institute on Aging Nia
United Kingdom, London
Reta Lila Weston Institute of Neurological Studies
Bouhlal, Yosr
United States, San Francisco
University of California, San Francisco
Houlden, Henry H.
United Kingdom, London
National Hospital for Neurology and Neurosurgery
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Amouri, Rim
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Singleton, Andrew B.
United States, Bethesda
National Institute on Aging Nia
Statistics
Citations: 113
Authors: 19
Affiliations: 6
Identifiers
Doi:
10.1016/j.ajhg.2012.12.012
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Genetics And Genomics