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

Kartanou, Chrisoula; Kontogeorgiou, Zoi; Rentzos, Michael; Potagas, Constantin; Aristeidou, Stavroula; Kapaki, Elisabeth; Paraskevas, George P.; Constantinides, Vasilios C.; Stefanis, Leonidas; Papageorgiou, Sokratis G.; Houlden, Henry; Πάνας, Μάριος; Karadima, Georgia

doi:10.1016/j.jns.2022.120450

Cited by 3 publications

(1 citation statement)

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“…Studies exploring the role of C9ORF72 repeat expansions in Alzheimer’s disease (AD) through genetic screening have shown that C9ORF72 repeat expansions are present only in small percentages of large cohorts of sporadic and familial clinically-diagnosed AD patients, and most often in young onset AD or atypical presentations [ 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ]. Most of these cases were attributed to misdiagnoses or fortuitous associations, and this was partly confirmed by autopsy studies of expansion carriers with a clinical diagnosis of AD, which revealed either isolated FTD-related pathology or FTD with concomitant AD pathology [ 13 , 24 ].…”

Section: Introductionmentioning

confidence: 99%

Young Onset Alzheimer’s Disease Associated with C9ORF72 Hexanucleotide Expansion: Further Evidence for a Still Unsolved Association

Vinceti

Gallingani

Zucchi

et al. 2023

Genes

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Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are recognized as part of a disease continuum (FTD-ALS spectrum), in which the most common genetic cause is chromosome 9 open reading frame 72 (C9ORF72) gene hexanucleotide repeat expansion. The clinical phenotype of patients carrying this expansion varies widely and includes diseases beyond the FTD-ALS spectrum. Although a few cases of patients with C9ORF72 expansion and a clinical or biomarker-supported diagnosis of Alzheimer’s disease (AD) have been described, they have been considered too sparse to establish a definite association between the C9ORF72 expansion and AD pathology. Here, we describe a C9ORF72 family with pleomorphic phenotypical expressions: a 54-year-old woman showing cognitive impairment and behavioral disturbances with both neuroimaging and cerebrospinal fluid (CSF) biomarkers consistent with AD pathology, her 49-year-old brother with typical FTD-ALS, and their 63-year-old mother with the behavioral variant of FTD and CSF biomarkers suggestive of AD pathology. The young onset of disease in all three family members and their different phenotypes and biomarker profiles make the simple co-occurrence of different diseases an extremely unlikely explanation. Our report adds to previous findings and may contribute to further expanding the spectrum of diseases associated with C9ORF72 expansion.

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