Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases-Reference-Cited by-同舟云学术

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

Published:2024-08-23 Issue: Volume: Page:
ISSN:1473-4230
Container-title:The Cerebellum
language:en
Short-container-title:Cerebellum

Author:

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

Funder

Fondazione Pierfranco e Luisa Mariani

Banca d'Italia

Fondazione Regionale per la Ricerca Biomedica

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s12311-024-01733-7.pdf

Reference21 articles.

1. Gillespie FD. Aniridia, cerebellar ataxia, and oligophrenia in siblings. Arch Ophthalmol. 1965;73:338–41. https://doi.org/10.1001/archopht.1965.00970030340008.

2. Gerber S, Alzayady KJ, Burglen L, et al. Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. Am J Hum Genet. 2016;98(5):971–80. https://doi.org/10.1016/j.ajhg.2016.03.004.

3. Hara K, Shiga A, Nozaki H, et al. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Neurology. 2008;71(8):547–51. https://doi.org/10.1212/01.wnl.0000311277.71046.a0.

4. Huang L, Chardon JW, Carter MT, et al. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. Orphanet J Rare Dis. 2012;7:67. https://doi.org/10.1186/1750-1172-7-67.

5. McEntagart M, Williamson KA, Rainger JK, et al. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. Am J Hum Genet. 2016;98(5):981–92. https://doi.org/10.1016/j.ajhg.2016.03.018.

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