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DOI 10.1212/nxg.0000000000200253

Медицинская библиотека · Neurology. Genetics · 2025

Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia.

Chen Shihan, Ashton Catherine, Sakalla Rawan, Clement Guillemette, Planel Sophie, Bonnet Céline, Lamont Phillipa J, Kulanthaivelu Karthik, Nalini Atchayaram, Houlden Henry, Duquette Antoine, Dicaire Marie-Josée, Iruzubieta Agudo Pablo, Ruiz-Martinez Javier, Marco De Lucas Enrique, Sutil Berjon Rodrigo, Infante Ceberio Jon, Indelicato Elisabetta, Boesch Sylvia M, Synofzik Matthis, Bender Benjamin, Danzi Matt C, Zuchner Stephan, Pellerin David, Brais Bernard, Renaud Mathilde, La Piana Roberta

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Аннотация

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.

Для цитирования: Chen Shihan, Ashton Catherine, Sakalla Rawan, Clement Guillemette, Planel Sophie, Bonnet Céline, Lamont Phillipa J, Kulanthaivelu Karthik, Nalini Atchayaram, Houlden Henry, Duquette Antoine, Dicaire Marie-Josée, Iruzubieta Agudo Pablo, Ruiz-Martinez Javier, Marco De Lucas Enrique, Sutil Berjon Rodrigo, Infante Ceberio Jon, Indelicato Elisabetta, Boesch Sylvia M, Synofzik Matthis, Bender Benjamin, Danzi Matt C, Zuchner Stephan, Pellerin David, Brais Bernard, Renaud Mathilde, La Piana Roberta. Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia.. Neurology. Genetics. 2025. DOI: 10.1212/nxg.0000000000200253.
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