Alström's Syndrome: Neurological Manifestations and Genetics-Reference-Cited by-同舟云学术

Alström's Syndrome: Neurological Manifestations and Genetics

Published:2022-12-05 Issue:01 Volume:21 Page:018-022
ISSN:1304-2580
Container-title:Journal of Pediatric Neurology
language:en
Short-container-title:Journal of Pediatric Neurology

Author:

Spoto Giulia¹,Pironti Erica²,Amore Greta¹,Prato Adriana¹,Scuderi Anna¹,Colucci Pia V.¹,Ceravolo Ida³,Farello Giovanni⁴,Salpietro Vincenzo⁵,Iapadre Giulia⁵,Rosa Gabriella Di¹,Dicanio Daniela¹

Affiliation:

1. Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

2. Unit of Child Neurology and Psychiatry, Department of Woman-Child, OspedaliRiuniti, University of Foggia, Foggia, Italy

3. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

4. Department of Life, Health and Environmental Sciences, Pediatric Clinic, Coppito, L'Aquila, Italy

5. Department of Pediatrics, University of L'Aquila, L'Aquila, Italy

Abstract

AbstractAlström syndrome (ALMS) is a rare ciliopathy with pleiotropic and wide spectrum of clinical features. It is autosomal recessively inherited and associated with mutations in ALMS1, a gene involved in cilia functioning. High clinical heterogeneity is the main feature of ALMS. Cone-rod dystrophy with blindness, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, hypertriglyceridemia, endocrine abnormalities, cardiomyopathy, and renal, hepatic, and pulmonary anomalies are the most common signs and symptoms.

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0042-1759538.pdf

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