• Savanna Andreou, Elena Panayiotou, Kyriaki Michailidou, Panayiota Pirpa, Andreas Hadjisavvas, Adonis El Salloukh, Daniel Barnes, Antonis Antoniou, Petros Agathangelou, Katia Papastavrou, Kyproula Christodoulou, George A Tanteles, and Theodoros Kyriakides.
• a Department of Neuropathology/Neurology Clinic A , The Cyprus Institute of Neurology & Genetics , Nicosia , Cyprus.
• Amyloid. 2018 Dec 1; 25 (4): 220226220-226.

BackgroundATTRV30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by amyloid deposition composed of aggregated misfolded TTR monomers with the V30M mutation. The age of onset in patients with ATTRV30M varies in different foci and the mechanism behind it is still unknown.MethodsThe tertiary neurology center following all ATTRV30M patients in Cyprus was used to collect demographic data to estimate; prevalence, incidence, penetrance, anticipation, time from disease onset to diagnosis and transplantation. Ocular, cardiac and leptomeningeal involvement in transplanted patients was explored. Correlation of C1q tagging SNPs with age of disease onset was carried out.ResultsPrevalence and incidence for ATTRV30M neuropathy in Cyprus are 5.4/100,000 and 0.3/100,000 respectively. Mean age of onset is 40.6 years and anticipation is 8.3 years. Penetrance reaches 51% and 75% by the ages of 50 and 80 years respectively. In liver transplanted patients rates of ocular, cardiac and leptomeningeal involvement were estimated to be 60%, 20% and 16%, respectively. C1q polymorphisms correlated with age of disease onset.ConclusionsATTRV30M neuropathy has a rising prevalence in Cyprus due to improved survival of patients. Late onset complications are becoming a major problem. Complement C1q appears to be a modifier in this disease.

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