@article{2996976,
    title = "Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country",
    author = "Koutsis, G. and Kastritis, E. and Kontogeorgiou, Z. and Kartanou, C. and Kokotis, P. and Rentzos, M. and Breza, M. and Kleopa, K.A. and Christodoulou, K. and Oikonomou, E. and Anastasakis, A. and Angelidakis, P. and Sarmas, I. and Kargiotis, O. and Tzagournissakis, M. and Zaganas, I. and Foukarakis, E. and Sachpekidis, V. and Papathoma, A. and Panas, M. and Stefanis, L. and Dimopoulos, M.A. and Karadima, G.",
    journal = "Neuromuscular Disorders",
    year = "2021",
    volume = "31",
    number = "12",
    pages = "1251-1258",
    publisher = "Elsevier Ireland Ltd",
    issn = "0960-8966",
    doi = "10.1016/j.nmd.2021.09.008",
    keywords = "adult;  aged;  amyloid neuropathy;  Article;  ATTR amyloidosis;  cohort analysis;  delayed diagnosis;  disease duration;  endemic disease;  female;  gene;  gene mutation;  genotype phenotype correlation;  Greece;  Greek (citizen);  human;  major clinical study;  male;  middle aged;  onset age;  publication;  TTR gene;  very elderly;  familial amyloid polyneuropathy;  genetics;  Southern Europe, transthyretin;  TTR protein, human, Adult;  Age of Onset;  Aged;  Amyloid Neuropathies, Familial;  Female;  Greece;  Humans;  Male;  Mediterranean Islands;  Middle Aged;  Prealbumin",
    abstract = "Comprehensive data on variant transthyretin amyloidosis polyneuropathy (ATTRv-PN) in Greece are lacking. We presently provide an overview of ATTRv-PN in Greece, focusing on unexplored non-endemic regions of the country. In total, we identified 57 cases of ATTRv-PN diagnosed over the past 25 years, including 30 from the island of Crete, an apparent endemic region. Patients carried 10 different TTR mutations (C10R; P24S; V30M; R34G; R34T; I68L; A81T; E89Q; E89K and V94A). Carriers of the common V30M mutation constituted 54.3 % of the cohort. A known founder effect for the V30M mutation was present on the island of Crete. Non-endemic cases identified outside the island of Crete are presently reported in more detail. The age of onset ranged from 25 to 77 years, with a mean of 51.1 years. A mean diagnostic delay of 3.2 years was observed. V30M patients had earlier onset and less cardiac involvement than patients carrying other mutations. Genotype-phenotype correlations were largely consistent with published data. We conclude that, with the exception of the Cretan cluster, ATTRv-PN is not endemic in the Greek population. This makes timely diagnosis more challenging, yet absolutely essential given the availability of therapies that can alter the long-term course of the disease. © 2021 Elsevier B.V."
}