umu.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience.
Show others and affiliations
2018 (English)In: Neuron, ISSN 0896-6273, E-ISSN 1097-4199, Vol. 97, no 6, p. 1268-1283.e6Article in journal (Refereed) Published
Abstract [en]

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.

Place, publisher, year, edition, pages
Cell Press , 2018. Vol. 97, no 6, p. 1268-1283.e6
National Category
Neurosciences
Identifiers
URN: urn:nbn:se:umu:diva-146567DOI: 10.1016/j.neuron.2018.02.027ISI: 000428235400013PubMedID: 29566793OAI: oai:DiVA.org:umu-146567DiVA, id: diva2:1206276
Available from: 2018-05-16 Created: 2018-05-16 Last updated: 2019-05-07Bibliographically approved

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full textPubMed

Authority records BETA

Andersen, Peter M.

Search in DiVA

By author/editor
Andersen, Peter M.
By organisation
Clinical NeuroscienceDepartment of Pharmacology and Clinical Neuroscience
In the same journal
Neuron
Neurosciences

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 70 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf