No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden

An intronic GGGGCC-hexanucleotide repeat expansion in C9ORF72 was recently identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia. Some amyotrophic lateral sclerosis patients have signs of parkinsonism, and many parkinsonism patients develop dementia. In this study...

Full description

Saved in:

Bibliographic Details
Published in:	Amyotrophic lateral sclerosis and frontotemporal degeneration Vol. 14; no. 1; pp. 26 - 29
Main Authors:	Akimoto, Chizuru, Forsgren, Lars, Linder, Jan, Birve, Anna, Backlund, Irene, Andersson, Jörgen, Nilsson, Ann-Charloth, Alstermark, Helena, Andersen, Peter M.
Format:	Journal Article
Language:	English
Published:	England Informa Healthcare 01-01-2013 Taylor & Francis
Subjects:	Aged Base Sequence C9ORF72 C9orf72 Protein disease (PD) DNA Repeat Expansion - genetics Female Genetic Markers - genetics Genetic Predisposition to Disease - epidemiology Genetic Predisposition to Disease - genetics hexanucleotide repeat expansion Humans Linkage Disequilibrium - genetics Male Middle Aged Molecular Sequence Data multiple system atrophy (MSA) Parkinson Disease - epidemiology Parkinson Disease - genetics Parkinson's Parkinson's disease (PD) Polymorphism, Single Nucleotide - genetics Prevalence progressive supranuclear palsy (PSP) Proteins - genetics Risk Factors Sweden - epidemiology
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	An intronic GGGGCC-hexanucleotide repeat expansion in C9ORF72 was recently identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia. Some amyotrophic lateral sclerosis patients have signs of parkinsonism, and many parkinsonism patients develop dementia. In this study we examined if the hexanucleotide repeat expansion was present in parkinsonism patients, to clarify if there could be a relationship between the repeat expansion and disease. We studied the size of the hexanucleotide repeat expansion in a well defined population-based cohort of 135 Parkinson's disease patients and 39 patients with atypical parkinsonism and compared with 645 Swedish control subjects. We found no correlation between Parkinson's disease or atypical parkinsonism and the size of the GGGGCC repeat expansion in C9ORF72. In conclusion, this GGGGCC-repeat expansion in C9ORF72 is not a cause of parkinsonism in the Swedish population.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	2167-8421 2167-9223
DOI:	10.3109/17482968.2012.725415