Cerebellar Control of Eye Movements

Blazquez, Pablo M.; Pastor, Ángel M.

doi:10.1007/978-3-030-23810-0_49

Cited by 1 publication

(2 citation statements)

References 95 publications

(107 reference statements)

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“…27 Hypofunction of lobule X can lead to disinhibition of the superior vestibular nuclei neurons, resulting in spontaneous slow upward drift followed by corrective downward saccade (downbeat nystagmus). 28 Gaze-evoked nystagmus is another feature thought to be due to inadequate lobule X control on the brainstem ocular motor integrator. 28 These results correspond well with the frequently observed clinical feature of nystagmus, with 57% of our cohort having downbeat nystagmus, and 57% having gaze-evoked horizontal nystagmus – rates similar to other reported cohorts (range between 37 and 78%).…”

Section: Discussionmentioning

confidence: 99%

“…23,24 Gazeevoked nystagmus is another feature thought to be due to inadequate lobule X control on the brainstem ocular motor integrator. 24 These results correspond well with 57% of our cohort having downbeat nystagmus, and 57% having gaze-evoked horizontal nystagmus -rates similar to other reported cohorts (range between 37 and 78%). 3,15,25,26 Nystagmus was present in all the subjects included in the volumetric analysis.…”

Section: Discussionmentioning

confidence: 99%

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Neuroradiological findings in GAA-FGF14ataxia (SCA27B): more than cerebellar atrophy

Chen,

Ashton,

Sakalla

et al. 2024

Preprint

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Background and Objectives GAA-FGF14 ataxia (SCA27B) is a recently reported late-onset cerebellar ataxia (LOCA) caused by a GAA repeat expansion in intron 1 of the FGF14 gene. Initial studies reviewing MR images of GAA-FGF14 ataxia patients revealed variable degree of cerebellar atrophy in 74-97% of them. A more detailed brain imaging characterization of GAA-FGF14 ataxia is now needed to provide 1) supportive diagnostic features and earlier disease recognition and 2) further information about the pathophysiology of the disease. Methods We reviewed the brain MRIs of 35 patients (median age at MRI 63 years; range 28-88 years; 16 females) from Quebec (n=27), Nancy (n=3), Perth (n=3) and Bengaluru (n=2) including longitudinal studies for 7 subjects. We performed qualitative analyses to assess the presence and degree of atrophy in vermis, cerebellar hemispheres, brainstem, cerebral hemispheres, and corpus callosum, as well as white matter involvement. Following the identification of the superior cerebellar peduncles involvement, we verified its presence in 54 GAA-FGF14 ataxia patients from four independent cohorts (Tuebingen n=29; Donostia n=12; Innsbruck n=7; Cantabria n=6). To assess lobular atrophy, we also performed quantitative cerebellar segmentation in 5 subjects and 5 age-matched controls. Results Cerebellar atrophy of variable degree was documented in 33 subjects (94.3%); limited to the vermis in 11 subjects, extended to the hemispheres in 22. We observed bilateral involvement of the superior cerebellar peduncles (SCPs) in 22 subjects (62.8%). We confirmed this finding in 30/54 (55.6%) GAA-FGF14 positive subjects from the validation cohorts. Additional findings were: cerebral atrophy in 15 subjects (42.9%), ventricular enlargement in 13 (37.1%), corpus callosum thinning in 7 (20%), and brainstem atrophy in 1 (2.8%). Cerebellar segmentation showed reduced volumes of lobules X and IV in affected individuals. Discussion Our study confirms that cerebellar atrophy is a key feature of GAA-FGF14 ataxia. The frequent SCP involvement observed in different cohorts may be specific to GAA-FGF14 ataxia, and its detection can support and accelerate the diagnosis. The predominant involvement of vestibulocerebellar lobule X correlates with the finding of downbeat nystagmus frequently observed in GAA-FGF14 ataxia patients.

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Section: Discussionmentioning

confidence: 99%