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
Jiayin Wang, Yan Lin, Zhihong Xu, Chuanzhu Yan, Yuying Zhao, Kunqian Ji
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 specific variant type, the severity of CoQ10 deficiency, and the degree of oxidative stress in individuals with primary CoQ10 deficiencies remains uncertain. Here we provide a comprehensive analysis of the clinical and genetic characteristics of an 18-year-old patient with COQ8A-ataxia, who exhibited novel compound heterozygous variants (c...
March 2, 2024: Cerebellum
Kensuke Ikeda, Ayane Tamagake, Takafumi Kubota, Rumiko Izumi, Tatsuo Yamaguchi, Kumiko Yanagi, Tatsuro Misu, Yoko Aoki, Tadashi Kaname, Masashi Aoki
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, neurological examination, brain imaging, and genetic investigation via whole-exome sequencing were performed. The patient presented with mild cerebellar ataxia and intellectual disability. Magnetic resonance imaging revealed cerebellar dysplasia and cysts and an absence of molar tooth sign...
February 29, 2024: Cerebellum
Giovanna De Michele, Luigi Maione, Sirio Cocozza, Mario Tranfa, Chiara Pane, Daniele Galatolo, Anna De Rosa, Giuseppe De Michele, Francesco Saccà, Alessandro Filla
The association of hypogonadism and cerebellar ataxia was first recognized in 1908 by Gordon Holmes. Since the seminal description, several heterogeneous phenotypes have been reported, differing for age at onset, associated features, and gonadotropins levels. In the last decade, the genetic bases of these disorders are being progressively uncovered. Here, we review the diseases associating ataxia and hypogonadism and the corresponding causative genes. In the first part of this study, we focus on clinical syndromes and genes (RNF216, STUB1, PNPLA6, AARS2, SIL1, SETX) predominantly associated with ataxia and hypogonadism as cardinal features...
April 2024: Cerebellum
Mario Manto, Marios Hadjivassiliou, José Fidel Baizabal-Carvallo, Christiane S Hampe, Jerome Honnorat, Bastien Joubert, Hiroshi Mitoma, Sergio Muñiz-Castrillo, Aasef G Shaikh, Alberto Vogrig
Immune-mediated cerebellar ataxias (IMCAs) have diverse etiologies. Patients with IMCAs develop cerebellar symptoms, characterized mainly by gait ataxia, showing an acute or subacute clinical course. We present a novel concept of latent autoimmune cerebellar ataxia (LACA), analogous to latent autoimmune diabetes in adults (LADA). LADA is a slowly progressive form of autoimmune diabetes where patients are often initially diagnosed with type 2 diabetes. The sole biomarker (serum anti-GAD antibody) is not always present or can fluctuate...
April 2024: Cerebellum
Rohaya Binti Mohamad Zakaria, Maisa Malta, Felixe Pelletier, Nassima Addour-Boudrahem, Elana Pinchefsky, Christine Saint Martin, Myriam Srour
The term Pontocerebellar Hypoplasia (PCH) was initially used to designate a heterogeneous group of fetal-onset genetic neurodegenerative disorders. As a descriptive term, PCH refers to pons and cerebellum of reduced volume. In addition to the classic PCH types described in OMIM, many other disorders can result in a similar imaging appearance. This study aims to review imaging, clinical and genetic features and underlying etiologies of a cohort of children with PCH on imaging. We systematically reviewed brain images and clinical charts of 38 patients with radiologic evidence of PCH...
April 2024: Cerebellum
Lili Liu, Juanjuan Chen, Guogao Zhang, Zhijian Lin, Di Chen, Jun Hu
No abstract text is available yet for this article.
February 24, 2024: Cerebellum
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