Alstrom 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.

Alstrom's Syndrome: Neurological Manifestations and Genetics

Spoto, Giulia
Primo
;
Pironti, Erica;Amore, Greta;Prato, Adriana;Scuderi, Anna;Colucci, Pia V.;Ceravolo, Ida;Di Rosa, Gabriella
;
Dicanio, Daniela
Ultimo
2023-01-01

Abstract

Alstrom 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.
2023
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11570/3272979
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