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Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion
Elisabet Englund1, Lars Gustafson, Ulla Passant
1Department of Pathology, Lund University, Regional Laboratories Region Skåne, Lund, Sweden.
Neurobiology of Aging
|April 10, 2012
Summary
Frontotemporal dementia (FTD) is a clinical disorder. A genetic expansion in the C9ORF72 gene on chromosome 9 was identified in a large family with FTD.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Frontotemporal dementia (FTD) is a significant clinical neurodegenerative disorder.
- The disorder was notably rediscovered in Lund and Manchester in the early 1990s.
- A specific large pedigree from Lund exhibiting behavioral variant FTD (bvFTD) has been extensively studied.
Purpose of the Study:
- To investigate the genetic underpinnings of FTD within the large Lund pedigree.
- To identify the specific genetic mutation responsible for behavioral variant frontotemporal dementia in this family.
Main Methods:
- Genetic analysis of the Lund pedigree.
- Focus on the recently identified C9ORF72 gene locus on chromosome 9.
Main Results:
- An expansion mutation was identified in the C9ORF72 gene.
- This genetic expansion is present in the Lund pedigree exhibiting behavioral variant frontotemporal dementia.
Conclusions:
- The C9ORF72 gene expansion is implicated in the cause of behavioral variant frontotemporal dementia in the Lund pedigree.
- This finding contributes to understanding the genetic basis of FTD and highlights the C9ORF72 locus as a key factor.
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