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^*

^*Corresponding author for this work

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

27 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
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 - 1 Dec 2020
Externally published	Yes

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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.\}",

note = "Publisher Copyright: {\textcopyright} American Academy of Neurology.",

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doi = "10.1212/WNL.0000000000011064",

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T1 - Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred

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.

UR - https://www.scopus.com/pages/publications/85097003304

U2 - 10.1212/WNL.0000000000011064

DO - 10.1212/WNL.0000000000011064

M3 - Article

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AN - SCOPUS:85097003304

SN - 0028-3878

VL - 95

SP - 1015

EP - 1018

JO - Neurology

JF - Neurology

IS - 22

ER -

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

Abstract

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