Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred

Sara Saez-Atienzar; Clifton L. Dalgard; Jinhui Ding; Adriano Chiò; Camile Alba; Dan N. Hupalo; Matthew D. Wilkerson; Robert Bowser; Erik P. Pioro; Richard Bedlack; Bryan J. Traynor

doi:10.1212/WNL.0000000000011064

Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred

Sara Saez-Atienzar, Clifton L. Dalgard, Jinhui Ding, Adriano Chiò, Camile Alba, Dan N. Hupalo, Matthew D. Wilkerson, Robert Bowser, Erik P. Pioro, Richard Bedlack, Bryan J. Traynor

Neurology

Research output: Contribution to journal › Article › peer-review

25 Scopus citations

Abstract

Not every gene nominated as a cause of human disease stands the test of time. As additional data become available, the evidence supporting the pathogenicity of a particular variant within a gene can be enhanced or diminished.1 The amyotrophic lateral sclerosis (ALS) field, as much as any other, has been hesitant to address these controversies, leading to uncertainty among the research community.

Original language	English (US)
Pages (from-to)	1015-1018
Number of pages	4
Journal	Neurology
Volume	95
Issue number	22
DOIs	https://doi.org/10.1212/WNL.0000000000011064
State	Published - Dec 1 2020

Funding

This work was supported by the Intramural Research Programs of the NIH, National Institute on Aging (Z01-AG000949-02). The work was also funded by the Packard Center for ALS Research at Hopkins, the ALS Association, the Muscular Dystrophy Association, the Italian Ministry of Health (RF-2016-02362405), the Italian Ministry of Education, University and Research (Progetti di Ricerca di Rilevante Interesse Nazionale, PRIN, grant n. 2017SNW5MB), the Joint Programme - Neurodegenerative Disease Research (JPND, Brain-Mend projects) granted by Italian Ministry of Education, University and Research, and by the European Community's Health Seventh Framework Programme (FP7/2007\u20132013, grant agreements no. 259867 and 278611), by the National Institute of Neurologic Disorders and Stroke (NIH grant number R35 NS097261), and by the Collaborative Health Initiative Research Program. This study was performed under the Department of Excellence grant of the Italian Ministry of Education, University and Research to the \u201CRita Levi Montalcini\u201D Department of Neuroscience, University of Torino, Italy. This study utilized the high-performance computational capabilities of the Biowulf Linux cluster at the NIH, Bethesda, Maryland ( hpc.nih.gov ). The institutional review boards of participating institutions approved the study (NIH, 03-AG-N329), and informed consent was obtained from all subjects or their surrogate decision-makers, according to the Declaration of Helsinki. The Article Processing Charge was funded by NIH.

ASJC Scopus subject areas

Clinical Neurology

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abstract = "Not every gene nominated as a cause of human disease stands the test of time. As additional data become available, the evidence supporting the pathogenicity of a particular variant within a gene can be enhanced or diminished.1 The amyotrophic lateral sclerosis (ALS) field, as much as any other, has been hesitant to address these controversies, leading to uncertainty among the research community.",

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AU - Chiò, Adriano

AU - Alba, Camile

AU - Hupalo, Dan N.

AU - Wilkerson, Matthew D.

AU - Bowser, Robert

AU - Pioro, Erik P.

AU - Bedlack, Richard

AU - Traynor, Bryan J.

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Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred

Abstract

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ASJC Scopus subject areas

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