Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.

Publication

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.

Journal Paper/Review - Feb 14, 2021

Shepheard Stephanie R, Parker Matthew D, Cooper-Knock Johnathan, Verber Nick S, Tuddenham Lee, Heath Paul R, Beauchamp Nick, Place Elsie, Sollars Elizabeth S A, Turner Martin R, Malaspina Andrea, Fratta Pietro, Hewamadduma Channa, Jenkins Thomas M, McDermott Christopher J, Wang Dennis, Kirby Janine, Openshaw Peter J M, Project MINE Consortium, Project MinE

Citation

Shepheard S, Parker M, Cooper-Knock J, Verber N, Tuddenham L, Heath P, Beauchamp N, Place E, Sollars E, Turner M, Malaspina A, Fratta P, Hewamadduma C, Jenkins T, McDermott C, Wang D, Kirby J, Openshaw P, Project MINE Consortium, Project MinE. Value of systematic genetic screening of patients with amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2021; 92:510-518.

Type

Journal Paper/Review (English)

Journal

J Neurol Neurosurg Psychiatry 2021; 92

Publication Date

Feb 14, 2021

Issn Electronic

1468-330X

Pages

510-518

Brief description/objective

The clinical utility of routine genetic sequencing in amyotrophic lateral sclerosis (ALS) is uncertain. Our aim was to determine whether routine targeted sequencing of 44 ALS-relevant genes would have a significant impact on disease subclassification and clinical care.