Investigation of C9orf72 in 4 Neurodegenerative Disorders
Open Access
- 1 December 2012
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 69 (12), 1583-1590
- https://doi.org/10.1001/archneurol.2012.2016
Abstract
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are fatal neurodegenerative syndromes that belong to the same clinicopathological spectrum.1,2 Frontotemporal lobar degeneration is a primary dementia characterized by early behavioral, language, and extrapyramidal changes, while symptoms of ALS are the result of the degeneration of motor neurons. Both syndromes may occur within the same family or even the same patient.Keywords
This publication has 44 references indexed in Scilit:
- Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort studyThe Lancet Neurology, 2012
- Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9pBrain, 2012
- Repeat Expansion inC9ORF72in Alzheimer's DiseaseThe New England Journal of Medicine, 2012
- Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72Acta Neuropathologica, 2011
- Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALSNeuron, 2011
- A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTDNeuron, 2011
- Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association studyThe Lancet Neurology, 2010
- Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association studyThe Lancet Neurology, 2010
- Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusionsNature Genetics, 2010
- Expanded clinical phenotype of women with the FMR1 premutationAmerican Journal of Medical Genetics Part A, 2008