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

22 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

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ASJC Scopus subject areas

Clinical Neurology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1212/WNL.0000000000011064

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title = "Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred",

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.",

author = "Sara Saez-Atienzar and Dalgard, {Clifton L.} and Jinhui Ding and Adriano Chi{\`o} and Camile Alba and Hupalo, {Dan N.} and Wilkerson, {Matthew D.} and Robert Bowser and Pioro, {Erik P.} and Richard Bedlack and Traynor, {Bryan J.}",

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AU - Saez-Atienzar, Sara

AU - Dalgard, Clifton L.

AU - Ding, Jinhui

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.

PY - 2020/12/1

Y1 - 2020/12/1

N2 - 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.

AB - 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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JO - Neurology

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

Abstract

Funding

ASJC Scopus subject areas

UN SDGs

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