No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden. Issue 1 (January 2013)

• Record Type: Journal Article
• Authors: Akimoto, Chizuru; Forsgren, Lars; Linder, Jan; Birve, Anna; Backlund, Irene; Andersson, Jörgen; Nilsson, Ann-Charloth; Alstermark, Helena; Andersen, Peter M.
• Is Part Of: Amyotrophic lateral sclerosis and frontotemporal degeneration. Volume 14:Issue 1(2013)
• Page Start: 26
• Page End: 29
• Publication Date: 2013-01
• Subjects: 616.839
• DOI: 10.3109/17482968.2012.725415
• Languages: English
• ISSNs: 2167-8421

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p>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 <italic>C9ORF72</italic>. In conclusion, this GGGGCC-repeat expansion in <italic>C9ORF72</italic> is not a cause of parkinsonism in the Swedish population.</p> </abstract>