Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.

Autor: Ciaccio C; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. claudia.ciaccio@istituto-besta.it., Taddei M; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Pantaleoni C; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Grisoli M; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Di Bella D; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Magri S; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Taroni F; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., D'Arrigo S; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Jazyk: angličtina
Zdroj: Cerebellum (London, England) [Cerebellum] 2024 Dec; Vol. 23 (6), pp. 2655-2670. Date of Electronic Publication: 2024 Aug 23.
DOI: 10.1007/s12311-024-01733-7
Abstrakt: Background: Gillespie syndrome is a rare disorder caused by pathogenic variants in ITPR1 gene and characterized by the typical association of cerebellar ataxia, bilateral aniridia and intellectual disability. Since its first description in 1965, less than 100 patients have been reported and only 30 with a molecular confirmation.
Methods: We present two additional cases, both carrying a loss-of-function variant in the Gly2539 amino acid residue. We describe the clinical evolution of the patients, one of whom is now 17 years old, and discuss the updated phenotypic spectrum of the disorder.
Results: The study gives an overview on the condition, allowing to confirm important data, such as an overall positive evolution of development (with some patient not presenting intellectual disability), a clinical stability of the neurological signs (regardless of a possible progression of cerebellar atrophy) and ocular aspects, and a low prevalence of general health comorbidities.
Discussion: Data about development and the observation of middle-aged patients lend support to the view that Gillespie is to be considered a non-progressive cerebellar ataxia, making this concept a key point for both clinicians and therapists, and for the families.
Competing Interests: Declarations. Ethical Statement: The study was performed in accordance with the principles stated in the Declaration of Helsinki and with the national ethical guidelines for single case studies. Informed Consent Statement: Informed consent for data publication was obtained from the parents of the two subjects involved in the study. Competing Interest: The authors declare no competing interests. Disclaimer The statements, opinions and data contained in all publications are solely those of the individual author(s) and contributor(s) and not of MDPI and/or the editor(s). MDPI and/or the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, methods, instructions or products referred to in the content.
(© 2024. The Author(s).)
Databáze: MEDLINE
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