Eya Torkhani Langlois, Daniel Bennequin, Giovanni de Marco
The perceptual and motor systems appear to have a set of movement primitives that exhibit certain geometric and kinematic invariances. Complex patterns and mental representations can be produced by (re)combining some simple motor elements in various ways using basic operations, transformations, and respecting a set of laws referred to as kinematic laws of motion. For example, point-to-point hand movements are characterized by straight hand paths with single-peaked-bell-shaped velocity profiles, whereas hand speed profiles for curved trajectories are often irregular and more variable, with speed valleys and inflections extrema occurring at the peak curvature...
April 16, 2024: Cerebellum
Dilek Cavusoglu, Gulten Ozturk, Dilsad Turkdogan, Semra Hiz Kurul, Uluc Yis, Mustafa Komur, Faruk Incecik, Bulent Kara, Turkan Sahin, Olcay Unver, Cengiz Dilber, Gulen Gul Mert, Cagatay Gunay, Gamze Sarikaya Uzan, Ozlem Ersoy, Yavuz Oktay, Serdar Mermer, Gokcen Oz Tuncer, Olcay Gungor, Gul Demet Kaya Ozcora, Ugur Gumus, Ozlem Sezer, Gokhan Ozan Cetin, Fatma Demir, Arzu Yilmaz, Gurkan Gurbuz, Meral Topcu, Haluk Topaloglu, Ahmet Cevdet Ceylan, Serdar Ceylaner, Joseph G Gleeson, Dilara Fusun Icagasioglu, F Mujgan Sonmez
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patients with PCH in Turkey. The genetic analysis included the whole-exome sequencing (WES), targeted next-generation sequencing (NGS), or single gene analysis...
April 15, 2024: Cerebellum
Yan Ding, Zhixuan Chen, Huaxuan Wen, Dandan Luo, Ying Yuan, Shaojun Zhang, Xiaohong Zhong, Shengli Li
This was a study of 12 cerebellar cortical dysplasias (CCDs) fetuses, these cases were characterized by a disorder of cerebellar fissures. Historically, CCD diagnosis was primarily performed using postnatal imaging. Unique to this study was the case series of CCD for prenatal diagnosis using prenatal ultrasound, as well as we found that AXIN1 and FOXC1 mutations may be related to CCD.
April 12, 2024: Cerebellum
Feifei Xu, Yu Wang, Wenjun Wang, Wenjia Liang, Yuchun Tang, Shuwei Liu
Preterm birth is associated with increased risk for a spectrum of neurodevelopmental disabilities. The cerebellum is implicated in a wide range of cognitive functions extending beyond sensorimotor control and plays an increasingly recognized role in brain development. Morphometric studies based on volume analyses have revealed impaired cerebellar development in preterm infants. However, the structural covariance between the cerebellum and cerebral cortex has not been studied during the neonatal period, and the extent to which structural covariance is affected by preterm birth remains unknown...
April 6, 2024: Cerebellum
Xia Liu, Lin Zhang, Hao-Lin Xu, Xia-Hua Liu, Arif Sikandar, Meng-Cheng Li, Xiao-Yue Xia, Zi-Qiang Huang, Na-Ping Chen, Yu-Qing Tu, Jian-Ping Hu, Shi-Rui Gan, Qun-Lin Chen, Xin-Yuan Chen, Shi-Zhong Wang
Repetitive transcranial magnetic stimulation (rTMS), a noninvasive neuroregulatory technique used to treat neurodegenerative diseases, holds promise for spinocerebellar ataxia type 3 (SCA3) treatment, although its efficacy and mechanisms remain unclear. This study aims to observe the short-term impact of cerebellar rTMS on motor function in SCA3 patients and utilize resting-state functional magnetic resonance imaging (RS-fMRI) to assess potential therapeutic mechanisms. Twenty-two SCA3 patients were randomly assigned to receive actual rTMS (AC group, n = 11, three men and eight women; age 32-55 years) or sham rTMS (SH group, n = 11, three men and eight women; age 26-58 years)...
April 1, 2024: Cerebellum
Fereshteh Kavandi Ghezeljeh, Reza Kazemi, Reza Rostami, Ahmad Zandbagleh, Sanaz Khomami, Fatemeh Rostam Vandi, Abed L Hadipour
The cerebellum has been shown to be engaged in tasks other than motor control, including cognitive and affective functions. Prior neuroimaging studies have documented the role of this area in social cognition and despite these findings, no studies have yet examined the causal relationship between the cerebellum and social cognition. This study aimed to investigate the role of the cerebellum in empathy and theory of mind (ToM) in a randomized, placebo-controlled, double-blind, parallel study. 32 healthy participants were assigned to either a sham or active group...
March 26, 2024: Cerebellum
Daiana Suelen Machado, Celiana Figueiredo Viana, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Pedro José Tomaselli, Wilson Marques, Thiago J R Rezende, Alberto R M Martinez, Marcondes Cavalcante França
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 characterized the diagnostic odyssey of the disease. We received anonymized data of patients with FRDA from advocacy groups and physicians. Prevalence was estimated dividing the number of patients by the population of the state as reported in the last census. Patients were invited to answer an online survey to describe clinical data and diagnostic journey of the disease...
March 23, 2024: Cerebellum
Stefan Macher, Daniela Dunkler, Anuscha Theresa Fiehl, Paulus Stefan Rommer, Kirsten Platho-Elwischger, Felix Konstantin Schwarz, Gerald Wiest
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 (SVV) in the pitch and roll planes only during whole-body tilts. To our knowledge, the effect of head tilt in the roll plane on the SVV and on DBN has not yet been systematically studied in patients. In this study, we investigated static and dynamic graviceptive function in the roll-plane in patients with DBN (patients) and healthy-controls (controls) by assessment of the Subjective Visual Vertical (SVV) and the modulation of slow-phase-velocity (SPV) of DBN...
March 18, 2024: Cerebellum
Mike Gilbert, Anders Rasmussen
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 cells inhibit granule cells in a structure called a glomerulus almost exclusively by GABA spillover acting through extrasynaptic GABAA receptors. Golgi cells are connected dendritically by gap junctions. It has long been suspected that feedback contributes to homeostatic regulation of parallel fibre signals activity, causing the fraction of the population that are active to be maintained at a low level...
March 18, 2024: Cerebellum
So-Yeon Yun, Jong-Hee Lee, Hyo-Jung Kim, Jeong-Yoon Choi, Ji-Soo Kim
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 of central positional nystagmus (CPN) by determining the effects of baclofen on the intensity of paroxysmal positional downbeat nystagmus due to central lesions. Fifteen patients with paroxysmal downbeat CPN were subjected to manual straight head-hanging before administration of baclofen, while taking baclofen 30 mg per day for at least one week, and two weeks after discontinuation of baclofen...
March 18, 2024: Cerebellum
Anna Sobanska, Leszek Czerwosz, Anna Sulek, Rafal Rola, Iwona Stepniak, Maria Rakowicz
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 disease onset ≤ 6 years (SCA1 +) aged 27.8 ± 8.1 years; 12 with expected disease onset > 6 years (SCA1-) aged 26.6 ± 3.1 years and 26 age and sex matched healthy controls (HCs) underwent static posturography during 5 years of observation...
March 16, 2024: Cerebellum
Le Gui, Vasiliki Tellios, Yun-Yan Xiang, Qingping Feng, Wataru Inoue, Wei-Yang Lu
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 companied with a rise of intracellular Ca2+ and critical for motor coordination. The genesis of EPSCSlow in PNs results from activation of metabotropic type 1 glutamate receptor (mGluR1), oligomerization of stromal interaction molecule 1 (STIM1) on the membrane of endoplasmic reticulum (ER) and opening of transient receptor potential canonical 3 (TRPC3) channels on the plasma membrane...
March 12, 2024: Cerebellum
Josefine Öhman, Elias Sjölin, Maurizio Cundari, Fredrik Johansson, Mike Gilbert, Henk-Jan Boele, Pär Svensson, Anders Rasmussen
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 postsynaptic potentials (EPSPs) in Purkinje cells. The number of EPSPs is a crucial variable when the brain is learning a new motor skill. Yet, we do not know what determines the number of EPSPs. Here, we measured the effect of nucleo-olivary stimulation on periorbital elicited climbing fiber responses through in-vivo intracellular Purkinje cell recordings in decerebrated ferrets...
March 11, 2024: Cerebellum
Adam P Vogel, Caroline Spencer, Katie Burke, Daniella de Bruyn, Peter Gibilisco, Scott Blackman, Jennifer M Vojtech, Thayabaran Kathiresan
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 (AAC) can play an ever increasing role in daily life for individuals with ataxia. This review describes the spectrum of AAC resources available, ranging from unaided gestures and sign language to high-tech solutions like speech-generating devices (SGDs) and eye-tracking technology...
March 7, 2024: Cerebellum
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
No abstract text is available yet for this article.
March 6, 2024: Cerebellum
Margherita Bertuccelli, Patrizia Bisiacchi, Alessandra Del Felice
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 cognitive features to disentangle PPC and cerebellar involvement in two sensorimotor-related functions: gait and body schema representation. Thirty healthy volunteers were enrolled and randomly assigned to PPC or cerebellar stimulation. Sham stimulation and 1 Hz-repetitive-Transcranial-Magnetic-Stimulation were delivered over P3 or cerebellum before a balance and a walking distance estimation task...
March 5, 2024: Cerebellum
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
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 the study is to explore the relationship between sleep microstructure and brain atrophy in SCA2 and its role in the clinical phenotype. Fourteen SCA2 mutation carriers (7 pre-manifest and 7 manifest subjects) underwent polysomnographic, structural MRI, and clinical assessments...
March 4, 2024: Cerebellum
Jessica A Bernard
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 functional perspectives. However, these circuits of interest have been primarily (though not exclusively) focused on targets in the cerebral cortex. In addition to these cortical connections, the circuit linking the cerebellum and hippocampus is of particular interest...
March 4, 2024: Cerebellum
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
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 Resonance Imaging (MRI) plays a key role in the evaluation of these conditions, being a fundamental diagnostic tool needed not only to exclude other causes determining the observed clinical phenotype, but also to proper guide to an adequate genetic testing. Here, we propose an MRI-based diagnostic algorithm named CHARON (Characterization of Hereditary Ataxias Relying On Neuroimaging), to help in disentangling among the numerous, and apparently very similar, hereditary degenerative ataxias...
March 4, 2024: Cerebellum
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
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 embryonic cerebellar grafts in adult Lurcher mice, a model of olivocerebellar degeneration, and their healthy littermates. Grafts taken from enhanced green fluorescent protein (EGFP)-positive embryos were injected into the cerebellum of host mice. Two or six months later, the brains were examined histologically...
March 2, 2024: Cerebellum
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