Alström's Syndrome: Neurological Manifestations and Genetics

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

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