The Cerebellum OnlineFirst articles

23.03.2024 | RESEARCH

Prevalence and Diagnostic Journey of Friedreich’s Ataxia in the State of São Paulo, Brazil

Friedreich's Ataxia (FRDA) is the leading cause of ataxia worldwide, but data on epidemiology and diagnostic journey are scarce, particularly in Latin America. Herein we estimated the prevalence of FRDA in the most populous Brazilian state and …

verfasst von:: Daiana Suelen Machado, Celiana Figueiredo Viana, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Pedro José Tomaselli, Wilson Marques Jr, Thiago J. R. Rezende, Alberto R. M. Martinez, Marcondes Cavalcante França Jr

Open Access 18.03.2024 | Research

Gap Junctions May Have A Computational Function In The Cerebellum: A Hypothesis

In the cerebellum, granule cells make parallel fibre contact on (and excite) Golgi cells and Golgi cells inhibit granule cells, forming an open feedback loop. Parallel fibres excite Golgi cells synaptically, each making a single contact. Golgi …

verfasst von:: Mike Gilbert, Anders Rasmussen

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Open Access 18.03.2024 | RESEARCH

Gravity-Dependent Modulation of Downbeat Nystagmus and Subjective Visual Vertical in the Roll Plane

Downbeat nystagmus (DBN) is the most common form of acquired central vestibular nystagmus. Gravity perception in patients with DBN has previously been investigated by means of subjective visual straight ahead (SVA) and subjective visual vertical …

verfasst von:: Stefan Macher, Daniela Dunkler, Anuscha Theresa Fiehl, Paulus Stefan Rommer, Kirsten Platho-Elwischger, Felix Konstantin Schwarz, Gerald Wiest

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Open Access 18.03.2024 | RESEARCH

Effects of Baclofen on Central Paroxysmal Positional Downbeat Nystagmus

Paroxysmal positional nystagmus frequently occurs in lesions involving the cerebellum, and has been ascribed to disinhibition and enhanced canal signals during positioning due to cerebellar dysfunction. This study aims to elucidate the mechanism …

verfasst von:: So-Yeon Yun, Jong-Hee Lee, Hyo-Jung Kim, Jeong‑Yoon Choi, Ji-Soo Kim

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16.03.2024 | RESEARCH

Quantitative Evaluation of Stance as a Sensitive Biomarker of Postural Ataxia Development in Preclinical SCA1 Mutation Carriers

The aim of this study was to determine the time between the first detection of postural control impairments and the evident manifestation of ataxia in preclinical SCA1 individuals. Twenty five preclinical SCA1 mutation carriers: 13 with estimated …

verfasst von:: Anna Sobanska, Leszek Czerwosz, Anna Sulek, Rafal Rola, Iwona Stepniak, Maria Rakowicz

12.03.2024 | RESEARCH

Neuronal Nitric Oxide Synthase Regulates Cerebellar Parallel Fiber Slow EPSC in Purkinje Neurons by Modulating STIM1-Gated TRPC3-Containing Channels

Responding to burst stimulation of parallel fibers (PFs), cerebellar Purkinje neurons (PNs) generate a convolved synaptic response displaying a fast excitatory postsynaptic current (EPSCFast) followed by a slow EPSC (EPSCSlow). The latter is …

verfasst von:: Le Gui, Vasiliki Tellios, Yun-Yan Xiang, Qingping Feng, Wataru Inoue, Wei-Yang Lu

Open Access 11.03.2024 | RESEARCH

The Effect of Nucleo-Olivary Stimulation on Climbing Fiber EPSPs in Purkinje Cells

Climbing fibers, connecting the inferior olive and Purkinje cells, form the nervous system's strongest neural connection. These fibers activate after critical events like motor errors or anticipation of rewards, leading to bursts of excitatory …

verfasst von:: Josefine Öhman, Elias Sjölin, Maurizio Cundari, Fredrik Johansson, Mike Gilbert, Henk-Jan Boele, Pär Svensson, Anders Rasmussen

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Open Access 07.03.2024 | REVIEW

Optimizing Communication in Ataxia: A Multifaceted Approach to Alternative and Augmentative Communication (AAC)

The progression of multisystem neurodegenerative diseases such as ataxia significantly impacts speech and communication, necessitating adaptive clinical care strategies. With the deterioration of speech, Alternative and Augmentative Communication …

verfasst von:: Adam P. Vogel, Caroline Spencer, Katie Burke, Daniella de Bruyn, Peter Gibilisco, Scott Blackman, Jennifer M. Vojtech, Thayabaran Kathiresan

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Open Access 06.03.2024 | Correction

Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration

verfasst von:: Mónica Ferreira, Tamara Schaprian, David Kügler, Martin Reuter, Katharina Deike-Hoffmann, Dagmar Timmann, Thomas M. Ernst, Paola Giunti, Hector Garcia-Moreno, Bart van de Warrenburg, Judith van Gaalen, Jeroen de Vries, Heike Jacobi, Katharina Marie Steiner, Gülin Öz, James M. Joers, Chiadi Onyike, Michal Povazan, Kathrin Reetz, Sandro Romanzetti, Thomas Klockgether, Jennifer Faber

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Open Access 05.03.2024 | RESEARCH

Disentangling Cerebellar and Parietal Contributions to Gait and Body Schema: A Repetitive Transcranial Magnetic Stimulation Study

The overlap between motor and cognitive signs resulting from posterior parietal cortex (PPC) and cerebellar lesions can mask their relative contribution in the sensorimotor integration process. This study aimed to identify distinguishing motor and …

verfasst von:: Margherita Bertuccelli, Patrizia Bisiacchi, Alessandra Del Felice

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04.03.2024 | REVIEW

Cerebello-Hippocampal Interactions in the Human Brain: A New Pathway for Insights Into Aging

The cerebellum is recognized as being important for optimal behavioral performance across task domains, including motor function, cognition, and affect. Decades of work have highlighted cerebello-thalamo-cortical circuits, from both structural and …

verfasst von:: Jessica A. Bernard

04.03.2024 | RESEARCH

Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype

The influence of brain atrophy on sleep microstructure in Spinocerebellar Ataxias (SCAs) has not been extensively explored limiting the use of these sleep traits as surrogate biomarkers of neurodegeneration and clinical phenotype. The objective of …

verfasst von:: Roberto Rodríguez-Labrada, Nalia Canales-Ochoa, Maria de Lourdes Galicia-Polo, Edilia Cruz-Rivas, Sandro Romanzetti, Arnoy Peña-Acosta, Annelié Estupiñán-Rodríguez, Yaimeé Vázquez-Mojena, Imis Dogan, Georg Auburger, Kathrin Reetz, Luis Velázquez-Pérez

Open Access 04.03.2024 | REVIEW

CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias

The complexity in diagnosing hereditary degenerative ataxias lies not only in their rarity, but also in the variety of different genetic conditions that can determine sometimes similar and overlapping clinical findings. In this light, Magnetic …

verfasst von:: Alessandra Scaravilli, Mario Tranfa, Giuseppe Pontillo, Bernard Brais, Giovanna De Michele, Roberta La Piana, Francesco Saccà, Filippo Maria Santorelli, Matthis Synofzik, Arturo Brunetti, Sirio Cocozza

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02.03.2024 | RESEARCH

Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures

COQ8A plays an important role in the biosynthesis of coenzyme Q10 (CoQ10), and variations in COQ8A gene are associated with primary CoQ10 deficiency-4 (COQ10D4), also known as COQ8A-ataxia. The current understanding of the association between the …

verfasst von:: Jiayin Wang, Yan Lin, Zhihong Xu, Chuanzhu Yan, Yuying Zhao, Kunqian Ji

02.03.2024 | RESEARCH

Quantification of Solid Embryonic Cerebellar Graft Volume in a Degenerative Ataxia Model

Substitution of lost neurons by neurotransplantation would be a possible management of advanced degenerative cerebellar ataxias in which insufficient cerebellar reserve remains. In this study, we examined the volume and structure of solid …

verfasst von:: Zdenka Purkartova, Kristyna Krakorova, Vaclav Babuska, Jan Tuma, Zbyněk Houdek, Nilpawan Roy Choudhury, Stepan Kapl, Yaroslav Kolinko, Martina Sucha, Elena Porras-Garcia, Milena Kralickova, Jan Cendelin

Open Access 29.02.2024 | CASE REPORT

Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup

This report describes an adult case of Poretti–Boltshauser syndrome (PTBHS) and with novel variants of LAMA1. A 65-year-old Japanese woman with cerebellar malformation identified during a medical checkup was referred to our hospital. Subsequently …

verfasst von:: Kensuke Ikeda, Ayane Tamagake, Takafumi Kubota, Rumiko Izumi, Tatsuo Yamaguchi, Kumiko Yanagi, Tatsuro Misu, Yoko Aoki, Tadashi Kaname, Masashi Aoki

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24.02.2024 | Correction

Correction to: A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia

verfasst von:: Lili Liu, Juanjuan Chen, Guogao Zhang, Zhijian Lin, Di Chen, Jun Hu

Open Access 20.02.2024 | RESEARCH

The Role of the Human Cerebellum for Learning from and Processing of External Feedback in Non-Motor Learning: A Systematic Review

This review aimed to systematically identify and comprehensively review the role of the cerebellum in performance monitoring, focusing on learning from and on processing of external feedback in non-motor learning. While 1078 articles were screened …

verfasst von:: Adam M. Berlijn, Dana M. Huvermann, Sandra Schneider, Christian Bellebaum, Dagmar Timmann, Martina Minnerop, Jutta Peterburs

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Open Access 16.02.2024 | Research

Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration

Cerebellar atrophy is the neuropathological hallmark of most ataxias. Hence, quantifying the volume of the cerebellar grey and white matter is of great interest. In this study, we aim to identify volume differences in the cerebellum between …

verfasst von:: Mónica Ferreira, Tamara Schaprian, David Kügler, Martin Reuter, Katharina Deike-Hoffmann, Dagmar Timmann, Thomas M. Ernst, Paola Giunti, Hector Garcia-Moreno, Bart van de Warrenburg, Judith van Gaalen, Jeroen de Vries, Heike Jacobi, Katharina Marie Steiner, Gülin Öz, James M. Joers, Chiadi Onyike, Michal Povazan, Kathrin Reetz, Sandro Romanzetti, Thomas Klockgether, Jennifer Faber

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Open Access 12.02.2024 | BRIEF REPORT

A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia

Spinocerebellar ataxias (SCAs) are inherited neurodegenerative diseases characterized by loss of balance, coordination, and slurred speech. Recently, a digenic mode of inheritance of TBP/STUB1 contributing to SCA was demonstrated. The clinical …

verfasst von:: Lili Liu, Juanjuan Chen, Guogao Zhang, Zhijian Lin, Di Chen, Jun Hu

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