Involvement of the Superior Cerebellar Peduncles in GAA- <i>FGF14</i> Ataxia
Shihan Chen, Catherine Ashton, Rawan Sakalla, Guillemette Clément, Sophie Planel, Céline Bonnet, Phillipa J. Lamont, Karthik Kulanthaivelu, Atchayaram Nalini, Henry Houlden, Antoine Duquette, Marie-Josée Dicaire, Pablo Iruzubieta, Javier Ruiz‐Martínez, Erin P. Lucas, Rodrigo Sutil Berjon, Jon Infante, Elisabetta Indelicato, Sylvia Boesch, Matthis Synofzik, Benjamin Bender, Matt C. Danzi, Stephan Züchner, David Pellerin, Bernard Brais, Mathilde Renaud, Roberta La Piana
Abstract
Objectives: 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.