Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population.

Chrisoula Kartanou Zoi Kontogeorgiou Michail Rentzos Constantin Potagas Stavroula Aristeidou Elisabeth Kapaki George P Paraskevas Vasilios C Constantinides Leonidas Stefanis Sokratis G Papageorgiou Henry Houlden Marios Panas Georgios Koutsis Georgia Karadima

J Neurol Sci

Neurogenetics Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Published: November 2022

The C9ORF72 hexanucleotide repeat expansion is linked to several neurodegenerative diseases, including ALS and FTD, and plays a role in HD-like conditions, and seldom in PD and AD.
The study involved testing 957 patients from Greece across various conditions, revealing positive C9ORF72 expansions in a notable percentage of ALS, HD-like syndromes, FTD, AD, and PD patients, but none in the hereditary spastic paraplegia (HSP) or control groups.
The findings highlight the significance of genetic testing for C9ORF72 in individuals with a family history or symptoms of ALS, FTD, and HD-like syndromes.

The C9ORF72 hexanucleotide repeat expansion is an established cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and has also been associated with Huntington disease (HD)-like syndromes and rarely with Parkinson's disease (PD) and Alzheimer's disease (AD). In the present study we aimed to investigate the genotypic and phenotypic profile of C9ORF72-related disorders in Greece. For this reason, 957 patients (467 with ALS, 53 with HD-like syndromes, 247 with dementia, 175 with PD and 15 with hereditary spastic paraplegia, HSP) and 321 controls were tested for the C9ORF72 repeat expansion. Forty-nine patients with ALS (10.5%), 2 with HD-like syndromes (3.8%), 13 with FTD (11.5%), 1 with AD (1.6%), and 2 with PD (1.1%) were expansion-positive. The expansion was not detected in the HSP or control groups. The results of this study provide an update on the spectrum of C9ORF72-related neurodegenerative diseases, emphasizing the importance of C9ORF72 genetic testing in Greek patients with familial and sporadic ALS and/or FTD and HD-like syndromes.

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http://dx.doi.org/10.1016/j.jns.2022.120450	DOI Listing

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