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C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies
Joshua T Geiger1, Karissa C Arthur, Ted M Dawson
1Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, Md., The Commonwealth Medical College, Scranton, Pa., USA.
Neuro-Degenerative Diseases
|June 1, 2016
Summary
The C9orf72 hexanucleotide repeat expansion, a cause of ALS and FTD, was not found in patients with dementia with Lewy bodies (DLB). This suggests C9orf72 is not a cause of DLB.
Area of Science:
- Neurodegenerative diseases
- Genetics of dementia
Background:
- Dementia with Lewy bodies (DLB) is a common neurodegenerative disorder in the elderly.
- The C9orf72 hexanucleotide expansion mutation is a known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
- Previous reports suggest a possible link between C9orf72 expansions and clinically diagnosed DLB.
Purpose of the Study:
- To investigate the presence of the C9orf72 hexanucleotide repeat expansion in pathologically confirmed DLB cases.
Main Methods:
- A cohort of 111 definite DLB cases with confirmed Lewy body pathology was screened.
- The repeat-primed polymerase chain reaction (PCR) assay was used to detect C9orf72 hexanucleotide repeat expansions.
Main Results:
- No pathogenic expansions of the C9orf72 hexanucleotide repeat were detected in the DLB cohort.
- These findings indicate no direct causal relationship between C9orf72 expansions and DLB.
Conclusions:
- C9orf72 screening is not recommended for DLB patients without a family history of motor neuron disease or frontotemporal dementia.
- This research helps differentiate DLB from other neurodegenerative conditions that may present with similar symptoms.
