The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis

Rosini, Francesca; Pretegiani, Elena; Mignarri, Andrea; Optican, Lance M.; Serchi, Valeria; Stefano, Nicola De; Battaglini, Marco; Monti, Lucia; Dotti, Maria Teresa; Federico, Antonio; Rufa, Alessandra

doi:10.1113/jp273670

Cited by 16 publications

(12 citation statements)

References 49 publications

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“…A retrospective study including Turkish patients < 18 years showed cataracts and diarrhea as predominant signs at disease onset. In this study, cerebellar signs were also more prevalent than pyramidal signs in pediatric cases [21]. In our cohort, all patients were diagnosed with CTX after neurological symptoms developed, and the mean age at diagnosis was 38.7 ± 9.6 years despite a mean onset age of 12.4 ± 10.6 years, which is consistent with the results of previous studies [7,17,18].…”

Section: Discussionsupporting

confidence: 91%

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis

et al. 2019

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Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In this study, we report 7 Turkish CTX patients who had a delayed diagnosis despite early clinical signs and belonged to 6 unrelated families. Methods:We have retrospectively evaluated clinical, laboratory, imaging, and genetic findings of CTX patients, which were collected from 2 centers specialized in movement disorders:

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Section: Discussionsupporting

confidence: 91%

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis

et al. 2019

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“…Indeed, anti-saccades increased error rate and prolonged latencies have been found in patients with Cerebrotendineous Xanthomatosis ( 24 ), Friedreich ataxia ( 25 ), Spinocerebellar Ataxia type 1 ( 26 ), SCA2 ( 27 ), focal cerebellar lesions ( 28 ), and degenerative cerebellar diseases ( 29 – 31 ). A significant correlation between high-error rates of anti-saccades and loss of gray matter volume in the posterolateral cerebellum has also been reported in neurodegenerative cerebellar diseases ( 77 ).…”

Section: Discussionmentioning

confidence: 99%

“…Similar abnormalities, however, have recently been reported also in cerebellar patients. A few studies, indeed, have found increased directional error rate and prolonged latencies of anti-saccades in patients with hereditary cerebellar ataxia ( 24 – 27 ), focal cerebellar lesions ( 28 ), and acquired degenerative cerebellar diseases ( 29 – 31 ). Therefore, while the medial cerebellum, dorsal vermis, and fastigial nucleus [oculomotor vermis (OMV)], is traditionally considered the structure where saccade dynamic is regulated online ( 32 ), the cerebellar hemispheres and dentate nuclei (lateral cerebellum), conventionally not considered part of the oculomotor system, have been proposed to play a role in monitoring high-level saccadic behaviors, including the anti-saccades ( 24 , 32 – 37 ).…”

Section: Introductionmentioning

confidence: 99%

Anti-Saccades in Cerebellar Ataxias Reveal a Contribution of the Cerebellum in Executive Functions

et al. 2018

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ObjectiveIncreasing evidence suggests a cerebellar contribution to modulate cognitive aspects of motor behavior and executive functions. Supporting findings come from studies on patients with neurodegenerative diseases, in which however, given the extent of the disease, the specific role of the cerebellum, could not be clearly isolated. Anti-saccades are considered a sensitive tool to test executive functions. The anti-saccade underlying neural network, consisting of different cortical areas and their downstream connections including the lateral cerebellum, has been largely clarified. To separate the role of the cerebellum with respect to other cortical structures in executive control, we compared the anti-saccade performances in two distinct cohorts of patients with cerebellar disorders (with and without cerebral cortical involvement).MethodsEye movements during the execution of anti-saccades were recorded in 12 patients with spinocerebellar ataxia type 2 (a cortical-subcortical neurodegenerative disease), 10 patients with late onset cerebellar ataxia (an isolated cerebellar atrophy), and 34 matched controls.ResultsIn the anti-saccade task, besides dynamic changes already demonstrated in the pro-saccades of these patients, we found in both groups of cerebellar patients prolonged latency with larger variability than normal and increased directional error rate. Errors, however, were corrected by cerebellar patients as frequently as normal. No significant differences were found in patients with and without cortical involvement.ConclusionOur results indicate, in a large cohort of cerebellar patients, that the cerebellum plays a critical role in the regulation of executive motor control not only, as well known, by controlling the end of a movement, but also modulating its initiation and reducing reflexive responses that would perturb voluntary actions.

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“…Late‐onset cerebrotendinous xanthomatosis is characterized by tendon xanthomas, psychiatric symptoms, and neurological symptoms, including pyramidal, cerebellar, and extrapyramidal signs in the second or third decade of life . Patients show abnormal pursuit, increased saccadic intrusions, multistep saccades, and antisaccade deficits . Chenodeoxycolic acid and statin therapy are an effective treatment and can prevent neurological involvement if started early …”

Section: Inborn Errors Of Metabolism Associated With Ocular Motor Dismentioning

confidence: 99%

“…21,45 Patients show abnormal pursuit, increased saccadic intrusions, multistep saccades, and antisaccade deficits. 46 Chenodeoxycolic acid and statin therapy are an effective treatment and can prevent neurological involvement if started early. 21,47,48…”

Section: Disorders Of Lipid Metabolismmentioning

confidence: 99%

Eye movement disorders and neurological symptoms in late‐onset inborn errors of metabolism

et al. 2018

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Inborn errors of metabolism in adults are still largely unexplored. Despite the fact that adult‐onset phenotypes have been known for many years, little attention is given to these disorders in neurological practice. The adult‐onset presentation differs from childhood‐onset phenotypes, often leading to considerable diagnostic delay. The identification of these patients at the earliest stage of disease is important, given that early treatment may prevent or lessen further brain damage. Neurological and psychiatric symptoms occur more frequently in adult forms. Abnormalities of eye movements are also common and can be the presenting sign. Eye movement disorders can be classified as central or peripheral. Central forms are frequently observed in lysosomal storage disorders, whereas peripheral forms are a key feature of mitochondrial disease. Furthermore, oculogyric crisis is an important feature in disorders affecting dopamine syntheses or transport. Ocular motor disorders are often not reported by the patient, and abnormalities can be easily overlooked in a general examination. In adults with unexplained psychiatric and neurological symptoms, a special focus on examination of eye movements can serve as a relatively simple clinical tool to detect a metabolic disorder. Eye movements can be easily quantified and analyzed with video‐oculography, making them a valuable biomarker for following the natural course of disease or the response to therapies. Here, we review, for the first time, eye movement disorders that can occur in inborn errors of metabolism, with a focus on late‐onset forms. We provide a step‐by‐step overview that will help clinicians to examine and interpret eye movement disorders. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

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The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis

Cited by 16 publications

References 49 publications

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis

Anti-Saccades in Cerebellar Ataxias Reveal a Contribution of the Cerebellum in Executive Functions

Eye movement disorders and neurological symptoms in late‐onset inborn errors of metabolism

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