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Article

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

Cerebellum (London, England) - 1 Dec 2024

Ciaccio Claudia, Taddei Matilde, Pantaleoni Chiara, Grisoli Marina, Di Bella Daniela, Magri Stefania, Taroni Franco, D'Arrigo Stefano

Abstract excerpt

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...

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Identifiers

PMID: 39177731
DOI: 10.1007/s12311-024-01733-7
PMCID: PMC11585489

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