@article{10902/36686,
year = {2025},
url = {https://hdl.handle.net/10902/36686},
abstract = {Objectives: GAA-FGF14 ataxia (SCA27B) is a recently reported late-onset ataxia caused by a GAA repeat expansion in intron 1 of the FGF14 gene. After the clinical observation of superior cerebellar peduncle (SCP) involvement in some affected patients, we sought to verify the prevalence of this finding in our cohort and 4 additional independent cohorts of patients with SCA27B.
Methods: We performed a retrospective review of the brain MRI scans of a total of 87 patients (median age at MRI 69 years; range 28-88 years) from different independent cohorts to assess the presence of SCP involvement, defined as abnormally high T2 signal along the SCP tract.
Results: We observed SCP involvement in 52 patients (52/87; 59.8%) from all the cohorts combined. The finding was replicated at rates ranging from 50% to 62.8% in the cohorts taken separately.
Discussion: SCP involvement in SCA27B is frequent. Its detection may facilitate the diagnostic process of patients with SCA27B.},
organization = {D. Pellerin has received a fellowship award from the Canadian
Institutes of Health Research (CIHR). B. Brais has received
funds from the Fondation Groupe Monaco and the Canadian
Institutes of Health Research (grant 189963). M.C. Danzi and
S. Zuckner were supported by the NIH National Institutes of
Neurologic Disorders and Stroke (grant 2R01NS072248-
11A1 to S.Z.) and the NIH National Human Genome Research
Institute (grant R21HG013397). M. Synofzik and B.
Brais were supported by the European Joint Programme on
Rare Diseases, as part of the PROSPAX consortium, under the
EJP RD COFUND-EJP no. 825575 (DFG, German Research
Foundation, No. 441409627). R. La Piana has received a
Research Scholar Junior 1 award from the Fonds de Recherche du Québec en Santé (FRQS), and research funds from the Canadian Radiologic Foundation, Canadian Institutes
of Health Research (grant 506913), Ataxia Canada, the
Spastic Paraplegia Foundation and Roche Canada.},
publisher = {Wolters Kluwer/Lippincott Williams & Wilkins},
publisher = {Neurology: Genetics, 2025, 11(2), e200253},
title = {Involvement of the superior cerebellar peduncles in GAA- FGF14 ataxia},
author = {Chen, Shihan and Ashton, Catherine and Sakalla, Rawan and Clement, Guillemette and Planel, Sophie and Bonnet, Céline and Lamont, Phillipa J. and Kulanthaivelu, Karthik and Nalini, Atchayaram and Houlden, Henry and Duquette, Antoine and Dicaire, Marie-Josée and Iruzubieta Agudo, Pablo and Ruiz Martinez, Javier and Marco de Lucas, Enrique and Sutil Berjon, Rodrigo
i and Infante Ceberio, Jon and Indelicato, Elisabetta and Boesch, Sylvia M. and Synofzik, Matthis},
}