Giulia Spoto, E. Pironti, Greta Amore, Adriana Prato, Anna Scuderi, P. V. Colucci, I. Ceravolo, G. Farello, V. Salpietro, G. Iapadre, G. Rosa, Daniela Dicanio
{"title":"Alström's Syndrome: Neurological Manifestations and Genetics","authors":"Giulia Spoto, E. Pironti, Greta Amore, Adriana Prato, Anna Scuderi, P. V. Colucci, I. Ceravolo, G. Farello, V. Salpietro, G. Iapadre, G. Rosa, Daniela Dicanio","doi":"10.1055/s-0042-1759538","DOIUrl":null,"url":null,"abstract":"Abstract Alström 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.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"7 1","pages":"018 - 022"},"PeriodicalIF":0.2000,"publicationDate":"2022-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatric neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0042-1759538","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Abstract Alström 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.
期刊介绍：
The Journal of Pediatric Neurology is a multidisciplinary peer-reviewed medical journal publishing articles in the fields of childhood neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience. The Journal of Pediatric Neurology, the official journal of the Society of Pediatric Science of the Yüzüncü Yil University in Turkiye, encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, rapid communications, case reports, neuroimage of the month, letters to the editor and book reviews.
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