C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients

Autor: Birgit Schmoll, Manuel Seijo-Martínez, Clement T. Loy, Peter R. Schofield, Eric Haan, Pau Pastor, Jordi Gascon, Marianne Hallupp, Carol Dobson-Stone, Ramón Reñé, Elizabeth Thompson, William S. Brooks, Cristina Razquin, Peter K. Panegyres, John B.J. Kwok, Alexander E Volk, Carolyn M. Sue, Jaume Campdelacreu
Jazyk: angličtina
Rok vydání: 2013
Předmět:
Proband
Male
Gene Identification and Analysis
lcsh:Medicine
Motor Neuron Diseases
0302 clinical medicine
Pathology
lcsh:Science
Demència
Genetics
0303 health sciences
Multidisciplinary
DNA Repeat Expansion
Neurodegenerative Diseases
Frontotemporal lobar degeneration
Middle Aged
Neurology
Frontotemporal Dementia
Medicine
Female
Frontotemporal dementia
Research Article
medicine.medical_specialty
Biology
White People
Molecular Genetics
03 medical and health sciences
Genetic Mutation
Diagnostic Medicine
Internal medicine
mental disorders
medicine
Dementia
Humans
Allele
Alleles
030304 developmental biology
Aged
C9orf72 Protein
lcsh:R
Amyotrophic Lateral Sclerosis
Australia
Proteins
Human Genetics
medicine.disease
Amyotrophic lateral sclerosis
Spain
Mutational Hypotheses
Genetics of Disease
lcsh:Q
Age of onset
Trinucleotide repeat expansion
030217 neurology & neurosurgery
Biomarkers
Esclerosi lateral amiotròfica
General Pathology
Zdroj: PLoS ONE
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS ONE, Vol 8, Iss 2, p e56899 (2013)
Recercat. Dipósit de la Recerca de Catalunya
instname
Popis: A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known. The aims of our study were to determine the frequency of the C9ORF72 repeat expansion in two FTD patient collections (one Australian and one Spanish, combined n = 190), to examine C9ORF72 expansion allele length in a subset of FTD patients, and to examine C9ORF72 allele length in 'non-expansion' patients (those with
Databáze: OpenAIRE
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