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Journal of Pediatric Neurology 2023; 21(01): 018-022
DOI: 10.1055/s-0042-1759538
Review Article

Alström's Syndrome: Neurological Manifestations and Genetics

Giulia Spoto
1   Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Erica Pironti
2   Unit of Child Neurology and Psychiatry, Department of Woman-Child, OspedaliRiuniti, University of Foggia, Foggia, Italy
,
Greta Amore
1   Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Adriana Prato
1   Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Anna Scuderi
1   Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Pia V. Colucci
1   Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Ida Ceravolo
3   Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
,
Giovanni Farello
4   Department of Life, Health and Environmental Sciences, Pediatric Clinic, Coppito, L'Aquila, Italy
,
Vincenzo Salpietro
5   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Giulia Iapadre
5   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Gabriella Di Rosa
1   Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Daniela Dicanio
1   Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
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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.

Keywords

Alström's syndrome - ALMS1 gene - ciliopathies - clinical features - neurological manifestations

Authors' Contribution

G.D.R. conceptualized the study; A.P. and A.S. conducted the investigation; resource collection was done by G.A. and G.I.; data curation was done by E.P. and D.D.; V.S. wrote the original draft preparation; writing review and editing were done by I.C. and P.V.C.; and G.F. supervised the study. All authors have read and agreed to the published version of the manuscript.


Data Availability

The data presented in this study are available on request from the corresponding author.




Publikationsverlauf

Eingereicht: 23. August 2022

Angenommen: 27. Oktober 2022

Artikel online veröffentlicht:
05. Dezember 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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