ATTRv amyloidosis Italian Registry: clinical and epidemiological data.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis
Massimo RussoGiuseppe Vita

Abstract

ATTRv amyloidosis is worldwide spread with endemic foci in Portugal and Sweden, Japan, Brazil, Maiorca, and Cyprus. A national Registry was developed to characterise the epidemiology and genotype-phenotype correlation of ATTRv amyloidosis in Italy and to allow a better planning of diagnostic and therapeutic services. Fifteen Italian referral centres for amyloidosis spread all over the country have contributed to the Registry. Four-hundred-forty-seven subjects were enrolled, 187 asymptomatic carriers and 260 affected patients. Thirty-one different mutations were recorded. The seven most represented genetic variants were significantly different in terms of age at onset, clinical features and geographical distribution. National prevalence is 4.33/million with higher values in Southern Italy. Overall symptoms of polyneuropathy were present at disease onset in about half of the patients, symptoms of cardiomyopathy in a quarter of patients, the rest referring carpal tunnel syndrome, dysautonomia or lumbar spinal stenosis. 52.6% of patients were in FAP stage 1, 20.4% in stage 2 and 13.5% in stage 3, while 13.5% patients had no neuropathy, presenting only cardiological symptoms. We presented an epidemiological study based on collaborat...Continue Reading

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Citations

Aug 5, 2020·Journal of Neurology·Alessandro SalvalaggioChiara Briani
Sep 17, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Luca LeonardiGiovanni Antonini
Oct 30, 2020·Brain Sciences·Marco LuigettiMario Sabatelli
Nov 15, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Fiore ManganelliDavide Pareyson
Dec 16, 2020·Brain Sciences·Massimo RussoAnna Mazzeo
May 1, 2021·Brain Sciences·Luca GentileAnna Mazzeo
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Jun 3, 2021·Genes·Marco LuigettiMarco Di Girolamo
Jun 21, 2021·Cardiology and Therapy·Luca GentileUNKNOWN THAOS investigators
Jul 1, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Luca LeonardiGiovanni Antonini

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