Werner syndrome: a rare mutation

Werner syndrome: a rare mutation Aging Clinical and Experimental Research https://doi.org/10.1007/s40520-018-0982-1 C ASE REPOR T 1 1 2 2 1 2 Alberto Castagna  · Pietro Gareri  · Francesca Falvo  · Simona Sestito  · Maurizio Rocca  · Licia Pensabene  · 2 4 3 Daniela Concolino  · Giuseppe Coppolino  · Giovanni Ruotolo Received: 21 February 2018 / Accepted: 30 May 2018 © Springer International Publishing AG, part of Springer Nature 2018 Keywords Werner syndrome · Diabetes mellitus · Hypercholesterolemia · Progeroid syndrome · Atherosclerosis Introduction Case report Werner syndrome (WS) is a premature progeroid syndrome A 55-year-old woman was visited 5 days following suspected characterized by early onset of age-related diseases, such as transient ischemic attack. At present, she was hospitalized in atherosclerosis, cancer predisposition, osteoporosis, type 2 a nursing home and suddenly presented difficulty in under - diabetes mellitus, skin ulcers, and ocular cataracts [1, 2]. It is standing words and articulating a speech. Symptoms lasted a rare autosomal recessive disorder of remarkable biomedi- about 20 min and were followed by about 5 h psychomotor cal interest, because patients exhibit an accelerated develop- slowdown, regressed within 12 h. Metabolic and hemody- ment of several major disorders commonly found in older namic parameters were normal. people. WRN is the gene responsible for the disease and Clinical history suggested hypercholesterolemia since encodes a RecQ-type http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Aging Clinical and Experimental Research Springer Journals

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Publisher
Springer International Publishing
Copyright
Copyright © 2018 by Springer International Publishing AG, part of Springer Nature
Subject
Medicine & Public Health; Geriatrics/Gerontology
eISSN
1720-8319
D.O.I.
10.1007/s40520-018-0982-1
Publisher site
See Article on Publisher Site

Abstract

Aging Clinical and Experimental Research https://doi.org/10.1007/s40520-018-0982-1 C ASE REPOR T 1 1 2 2 1 2 Alberto Castagna  · Pietro Gareri  · Francesca Falvo  · Simona Sestito  · Maurizio Rocca  · Licia Pensabene  · 2 4 3 Daniela Concolino  · Giuseppe Coppolino  · Giovanni Ruotolo Received: 21 February 2018 / Accepted: 30 May 2018 © Springer International Publishing AG, part of Springer Nature 2018 Keywords Werner syndrome · Diabetes mellitus · Hypercholesterolemia · Progeroid syndrome · Atherosclerosis Introduction Case report Werner syndrome (WS) is a premature progeroid syndrome A 55-year-old woman was visited 5 days following suspected characterized by early onset of age-related diseases, such as transient ischemic attack. At present, she was hospitalized in atherosclerosis, cancer predisposition, osteoporosis, type 2 a nursing home and suddenly presented difficulty in under - diabetes mellitus, skin ulcers, and ocular cataracts [1, 2]. It is standing words and articulating a speech. Symptoms lasted a rare autosomal recessive disorder of remarkable biomedi- about 20 min and were followed by about 5 h psychomotor cal interest, because patients exhibit an accelerated develop- slowdown, regressed within 12 h. Metabolic and hemody- ment of several major disorders commonly found in older namic parameters were normal. people. WRN is the gene responsible for the disease and Clinical history suggested hypercholesterolemia since encodes a RecQ-type

Journal

Aging Clinical and Experimental ResearchSpringer Journals

Published: Jun 6, 2018

References

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