TY - JOUR
TI - Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country
AU - Koutsis, G.
AU - Kastritis, E.
AU - Kontogeorgiou, Z.
AU - Kartanou, C.
AU - Kokotis, P.
AU - Rentzos, M.
AU - Breza, M.
AU - Kleopa, K.A.
AU - Christodoulou, K.
AU - Oikonomou, E.
AU - Anastasakis, A.
AU - Angelidakis, P.
AU - Sarmas, I.
AU - Kargiotis, O.
AU - Tzagournissakis, M.
AU - Zaganas, I.
AU - Foukarakis, E.
AU - Sachpekidis, V.
AU - Papathoma, A.
AU - Panas, M.
AU - Stefanis, L.
AU - Dimopoulos, M.A.
AU - Karadima, G.
JO - Neuromuscular Disorders
PY - 2021
VL - 31
TODO - 12
SP - 1251-1258
PB - Elsevier Ireland Ltd
SN - 0960-8966
TODO - 10.1016/j.nmd.2021.09.008
TODO - 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
TODO - 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.
ER -