Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study.

Hdl Handle:
http://hdl.handle.net/10147/223259
Title:
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study.
Authors:
Byrne, Susan; Elamin, Marwa; Bede, Peter; Shatunov, Aleksey; Walsh, Cathal; Corr, Bernie; Heverin, Mark; Jordan, Norah; Kenna, Kevin; Lynch, Catherine; McLaughlin, Russell L; Iyer, Parameswaran Mahadeva; O'Brien, Caoimhe; Phukan, Julie; Wynne, Brona; Bokde, Arun L; Bradley, Daniel G; Pender, Niall; Al-Chalabi, Ammar; Hardiman, Orla
Affiliation:
Department of Neurology, Beaumont Hospital, Dublin, Ireland. byrnes33@tcd.ie
Citation:
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. 2012, 11 (3):232-40 Lancet Neurol
Journal:
Lancet neurology
Issue Date:
Mar-2012
URI:
http://hdl.handle.net/10147/223259
DOI:
10.1016/S1474-4422(12)70014-5
PubMed ID:
22305801
Abstract:
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of upper and lower motor neurons, associated with frontotemporal dementia (FTD) in about 14% of incident cases. We assessed the frequency of the recently identified C9orf72 repeat expansion in familial and apparently sporadic cases of ALS and characterised the cognitive and clinical phenotype of patients with this expansion.
Item Type:
Article
Language:
en
MeSH:
Aged; Amyotrophic Lateral Sclerosis; Brain; Chromosomes, Human, Pair 9; Cognition; Cohort Studies; DNA Repeat Expansion; Female; Humans; Longitudinal Studies; Male; Middle Aged; Neuroimaging; Neuropsychological Tests
ISSN:
1474-4465

Full metadata record

DC FieldValue Language
dc.contributor.authorByrne, Susanen_GB
dc.contributor.authorElamin, Marwaen_GB
dc.contributor.authorBede, Peteren_GB
dc.contributor.authorShatunov, Alekseyen_GB
dc.contributor.authorWalsh, Cathalen_GB
dc.contributor.authorCorr, Bernieen_GB
dc.contributor.authorHeverin, Marken_GB
dc.contributor.authorJordan, Norahen_GB
dc.contributor.authorKenna, Kevinen_GB
dc.contributor.authorLynch, Catherineen_GB
dc.contributor.authorMcLaughlin, Russell Len_GB
dc.contributor.authorIyer, Parameswaran Mahadevaen_GB
dc.contributor.authorO'Brien, Caoimheen_GB
dc.contributor.authorPhukan, Julieen_GB
dc.contributor.authorWynne, Bronaen_GB
dc.contributor.authorBokde, Arun Len_GB
dc.contributor.authorBradley, Daniel Gen_GB
dc.contributor.authorPender, Niallen_GB
dc.contributor.authorAl-Chalabi, Ammaren_GB
dc.contributor.authorHardiman, Orlaen_GB
dc.date.accessioned2012-05-11T13:24:41Z-
dc.date.available2012-05-11T13:24:41Z-
dc.date.issued2012-03-
dc.identifier.citationCognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. 2012, 11 (3):232-40 Lancet Neurolen_GB
dc.identifier.issn1474-4465-
dc.identifier.pmid22305801-
dc.identifier.doi10.1016/S1474-4422(12)70014-5-
dc.identifier.urihttp://hdl.handle.net/10147/223259-
dc.description.abstractAmyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of upper and lower motor neurons, associated with frontotemporal dementia (FTD) in about 14% of incident cases. We assessed the frequency of the recently identified C9orf72 repeat expansion in familial and apparently sporadic cases of ALS and characterised the cognitive and clinical phenotype of patients with this expansion.en_GB
dc.language.isoenen
dc.rightsArchived with thanks to Lancet neurologyen_GB
dc.subject.meshAged-
dc.subject.meshAmyotrophic Lateral Sclerosis-
dc.subject.meshBrain-
dc.subject.meshChromosomes, Human, Pair 9-
dc.subject.meshCognition-
dc.subject.meshCohort Studies-
dc.subject.meshDNA Repeat Expansion-
dc.subject.meshFemale-
dc.subject.meshHumans-
dc.subject.meshLongitudinal Studies-
dc.subject.meshMale-
dc.subject.meshMiddle Aged-
dc.subject.meshNeuroimaging-
dc.subject.meshNeuropsychological Tests-
dc.titleCognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study.en_GB
dc.typeArticleen
dc.contributor.departmentDepartment of Neurology, Beaumont Hospital, Dublin, Ireland. byrnes33@tcd.ieen_GB
dc.identifier.journalLancet neurologyen_GB
dc.description.provinceLeinsteren

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