C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies

Overview

Journal Neurodegener Dis

Publisher Karger

Specialty Neurology

Date 2016 Jun 1

PMID 27241037

Citations 6

Authors

Joshua T Geiger

Karissa C Arthur

Ted M Dawson

Liana S Rosenthal

Alexander Pantelyat

Marilyn Albert

Argye E Hillis

Barbara Crain

Olga Pletnikova

Juan C Troncoso

Sonja W Scholz

Affiliations

Soon will be listed here.

Abstract

Background: Dementia with Lewy bodies (DLB) is the second most common neurodegenerative dementia affecting the elderly. The GGGGCC hexanucleotide expansion mutation at the C9orf72 locus has been identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia, raising the question of whether this mutation is a factor in DLB. Furthermore, a small number of clinically diagnosed DLB patients have previously been reported to carry the pathologic C9orf72 hexanucleotide repeat expansion.

Objective: To explore whether the C9orf72 mutation is present in pathologically confirmed DLB patients.

Methods: We screened a cohort of 111 definite DLB cases with extensive Lewy body pathology for the C9orf72 hexanucleotide repeat expansion using the repeat-primed polymerase chain reaction assay.

Results: No pathogenic expansions of the C9orf72 hexanucleotide repeat were found, suggesting that there is no causal relationship between C9orf72 and DLB.

Conclusion: Our data illustrate that C9orf72 screening of clinically diagnosed DLB patients should only be considered in cases with a family history of motor neuron disease or frontotemporal dementia to distinguish between mimic diseases.

Citing Articles

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C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.

Bourinaris T, Houlden H Mov Disord Clin Pract. 2019; 5(6):575-585.

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The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions.

Orme T, Guerreiro R, Bras J Curr Neurol Neurosci Rep. 2018; 18(10):67.

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Intermediate C9orf72 alleles in neurological disorders: does size really matter?.

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Kun-Rodrigues C, Ross O, Orme T, Shepherd C, Parkkinen L, Darwent L Neurobiol Aging. 2016; 49:214.e13-214.e15.

PMID: 27666590 PMC: 5154872. DOI: 10.1016/j.neurobiolaging.2016.08.023.

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