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Annals of Neurology

Publication date: 2014-07-01
Volume: 76 Pages: 120 - 33
Publisher: American Neurological Association

Author:

Diekstra, Frank P
Van Deerlin, Vivianna M ; van Swieten, John C ; Al-Chalabi, Ammar ; Ludolph, Albert C ; Weishaupt, Jochen H ; Hardiman, Orla ; Landers, John E ; Brown, Robert H ; van Es, Michael A ; Pasterkamp, R Jeroen ; Koppers, Max ; Andersen, Peter M ; Estrada, Karol ; Rivadeneira, Fernando ; Hofman, Albert ; Uitterlinden, André G ; Van Damme, Philip ; Melki, Judith ; Meininger, Vincent ; Shatunov, Aleksey ; Shaw, Christopher E ; Leigh, P Nigel ; Shaw, Pamela J ; Morrison, Karen E ; Fogh, Isabella ; Chiò, Adriano ; Traynor, Bryan J ; Czell, David ; Weber, Markus ; Heutink, Peter ; de Bakker, Paul IW ; Silani, Vincenzo ; Robberecht, Wim ; van den Berg, Leonard H ; Veldink, Jan H

Keywords:

Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, HEREDITARY SPASTIC PARAPLEGIA, LOBAR DEGENERATION, HEXANUCLEOTIDE REPEAT, COGNITIVE IMPAIRMENT, SUSCEPTIBILITY LOCI, ASSOCIATION, ALS, DISEASES, MUTATIONS, VARIANTS, Amyotrophic Lateral Sclerosis, C9orf72 Protein, Chromosomes, Human, Pair 19, Chromosomes, Human, Pair 9, DNA Repeat Expansion, Frontotemporal Dementia, Genome-Wide Association Study, Humans, Mutation, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Proteins, 1103 Clinical Sciences, 1109 Neurosciences, Neurology & Neurosurgery, 3202 Clinical sciences, 3209 Neurosciences

Abstract:

Substantial clinical, pathological, and genetic overlap exists between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 inclusions have been found in both ALS and FTD cases (FTD-TDP). Recently, a repeat expansion in C9orf72 was identified as the causal variant in a proportion of ALS and FTD cases. We sought to identify additional evidence for a common genetic basis for the spectrum of ALS-FTD.