VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families
Our group previously described and mapped to chromosomal region 12p13 a form of dominantly inherited hereditary spastic ataxia (HSA) in three large Newfoundland (Canada) families. This report identifies vesicle-associated membrane protein 1 (VAMP1), which encodes a critical protein for synaptic exoc...
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ftpubmed:oai:pubmedcentral.nih.gov:3511983 2023-05-15T17:20:53+02:00 VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families Bourassa, Cynthia V. Meijer, Inge A. Merner, Nancy D. Grewal, Kanwal K. Stefanelli, Mark G. Hodgkinson, Kathleen Ives, Elizabeth J. Pryse-Phillips, William Jog, Mandar Boycott, Kym Grimes, David A. Goobie, Sharan Leckey, Richard Dion, Patrick A. Rouleau, Guy A. 2012-09-07 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511983 http://www.ncbi.nlm.nih.gov/pubmed/22958904 https://doi.org/10.1016/j.ajhg.2012.07.018 en eng Elsevier http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511983 http://www.ncbi.nlm.nih.gov/pubmed/22958904 http://dx.doi.org/10.1016/j.ajhg.2012.07.018 © 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. Report Text 2012 ftpubmed https://doi.org/10.1016/j.ajhg.2012.07.018 2013-09-04T16:40:36Z Our group previously described and mapped to chromosomal region 12p13 a form of dominantly inherited hereditary spastic ataxia (HSA) in three large Newfoundland (Canada) families. This report identifies vesicle-associated membrane protein 1 (VAMP1), which encodes a critical protein for synaptic exocytosis, as the responsible gene. In total, 50 affected individuals from these families and three independent probands from Ontario (Canada) share the disease phenotype together with a disruptive VAMP1 mutation that affects a critical donor site for the splicing of VAMP1 isoforms. This mutation leads to the loss of the only VAMP1 isoform (VAMP1A) expressed in the nervous system, thus highlighting an association between the well-studied VAMP1 and a neurological disorder. Given the variable phenotype seen in the affected individuals examined here, we believe that VAMP1 should be tested for mutations in patients with either ataxia or spastic paraplegia. Text Newfoundland PubMed Central (PMC) Canada The American Journal of Human Genetics 91 3 548 552 |
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Report Bourassa, Cynthia V. Meijer, Inge A. Merner, Nancy D. Grewal, Kanwal K. Stefanelli, Mark G. Hodgkinson, Kathleen Ives, Elizabeth J. Pryse-Phillips, William Jog, Mandar Boycott, Kym Grimes, David A. Goobie, Sharan Leckey, Richard Dion, Patrick A. Rouleau, Guy A. VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families |
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Report |
description |
Our group previously described and mapped to chromosomal region 12p13 a form of dominantly inherited hereditary spastic ataxia (HSA) in three large Newfoundland (Canada) families. This report identifies vesicle-associated membrane protein 1 (VAMP1), which encodes a critical protein for synaptic exocytosis, as the responsible gene. In total, 50 affected individuals from these families and three independent probands from Ontario (Canada) share the disease phenotype together with a disruptive VAMP1 mutation that affects a critical donor site for the splicing of VAMP1 isoforms. This mutation leads to the loss of the only VAMP1 isoform (VAMP1A) expressed in the nervous system, thus highlighting an association between the well-studied VAMP1 and a neurological disorder. Given the variable phenotype seen in the affected individuals examined here, we believe that VAMP1 should be tested for mutations in patients with either ataxia or spastic paraplegia. |
format |
Text |
author |
Bourassa, Cynthia V. Meijer, Inge A. Merner, Nancy D. Grewal, Kanwal K. Stefanelli, Mark G. Hodgkinson, Kathleen Ives, Elizabeth J. Pryse-Phillips, William Jog, Mandar Boycott, Kym Grimes, David A. Goobie, Sharan Leckey, Richard Dion, Patrick A. Rouleau, Guy A. |
author_facet |
Bourassa, Cynthia V. Meijer, Inge A. Merner, Nancy D. Grewal, Kanwal K. Stefanelli, Mark G. Hodgkinson, Kathleen Ives, Elizabeth J. Pryse-Phillips, William Jog, Mandar Boycott, Kym Grimes, David A. Goobie, Sharan Leckey, Richard Dion, Patrick A. Rouleau, Guy A. |
author_sort |
Bourassa, Cynthia V. |
title |
VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families |
title_short |
VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families |
title_full |
VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families |
title_fullStr |
VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families |
title_full_unstemmed |
VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families |
title_sort |
vamp1 mutation causes dominant hereditary spastic ataxia in newfoundland families |
publisher |
Elsevier |
publishDate |
2012 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511983 http://www.ncbi.nlm.nih.gov/pubmed/22958904 https://doi.org/10.1016/j.ajhg.2012.07.018 |
geographic |
Canada |
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Canada |
genre |
Newfoundland |
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Newfoundland |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511983 http://www.ncbi.nlm.nih.gov/pubmed/22958904 http://dx.doi.org/10.1016/j.ajhg.2012.07.018 |
op_rights |
© 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. |
op_doi |
https://doi.org/10.1016/j.ajhg.2012.07.018 |
container_title |
The American Journal of Human Genetics |
container_volume |
91 |
container_issue |
3 |
container_start_page |
548 |
op_container_end_page |
552 |
_version_ |
1766102716816293888 |