Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration
In this study, we aim to identify volume differences in the cerebellum between spinocerebellar ataxia type 1 (SCA1), SCA3 and SCA6 as well as multiple system atrophy of cerebellar type (MSA-C). Our cross-sectional data set comprised mutation carriers of SCA1 (N=12), SCA3 (N=62), SCA6 (N=14), as well as MSA-C patients (N=16). Cerebellar volumes were obtained from T1-weighted magnetic resonance images. To compare the different atrophy patterns, we performed a z-transformation and plotted the intercept of each patient group's model at the mean of 7 years of ataxia duration as well as at the mean ataxia severity of 14 points i...
Source: Cerebellum - February 16, 2024 Category: Neuroscience Authors: M ónica Ferreira Tamara Schaprian David K ügler 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 G ülin Source Type: research
Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration
In this study, we aim to identify volume differences in the cerebellum between spinocerebellar ataxia type 1 (SCA1), SCA3 and SCA6 as well as multiple system atrophy of cerebellar type (MSA-C). Our cross-sectional data set comprised mutation carriers of SCA1 (N=12), SCA3 (N=62), SCA6 (N=14), as well as MSA-C patients (N=16). Cerebellar volumes were obtained from T1-weighted magnetic resonance images. To compare the different atrophy patterns, we performed a z-transformation and plotted the intercept of each patient group's model at the mean of 7 years of ataxia duration as well as at the mean ataxia severity of 14 points i...
Source: Cerebellum - February 16, 2024 Category: Neuroscience Authors: M ónica Ferreira Tamara Schaprian David K ügler 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 G ülin Source Type: research
Serum S100 β Levels Are Linked with Cognitive Decline and Peripheral Inflammation in Spinocerebellar Ataxia Type 2
The objective of the study is to determine the serum levels of S100β in SCA2 and its relationship with molecular, clinical, cognitive, and peripheral inflammatory markers of the disease. Serum concentrations of S100β were measured by enzyme-linked immunosorbent assay in 39 SCA2 subjects and 36 age- and gender-matched controls. Clinical scores of ataxia, non-ataxia symptoms, cognitive dysfunction, and some blood cell count-derived inflammatory indices were assessed. The SCA2 individuals manifested S100β levels similar to the control group, at low nanomolar concentrations. However, the S100β levels were directly associat...
Source: Cerebellum - February 12, 2024 Category: Neuroscience Authors: Yaime é Vázquez-Mojena Roberto Rodr íguez-Labrada Yanetsy C órdova-Rodríguez Yennis Dom ínguez-Barrios Mario E Fern ández-Herrera Karen Le ón-Arcia Nancy Pav ón-Fuentes Maria de Los Angeles Robinson-Agramonte Luis Vel ázquez-Pérez Source Type: research
Serum S100 β Levels Are Linked with Cognitive Decline and Peripheral Inflammation in Spinocerebellar Ataxia Type 2
The objective of the study is to determine the serum levels of S100β in SCA2 and its relationship with molecular, clinical, cognitive, and peripheral inflammatory markers of the disease. Serum concentrations of S100β were measured by enzyme-linked immunosorbent assay in 39 SCA2 subjects and 36 age- and gender-matched controls. Clinical scores of ataxia, non-ataxia symptoms, cognitive dysfunction, and some blood cell count-derived inflammatory indices were assessed. The SCA2 individuals manifested S100β levels similar to the control group, at low nanomolar concentrations. However, the S100β levels were directly associat...
Source: Cerebellum - February 12, 2024 Category: Neuroscience Authors: Yaime é Vázquez-Mojena Roberto Rodr íguez-Labrada Yanetsy C órdova-Rodríguez Yennis Dom ínguez-Barrios Mario E Fern ández-Herrera Karen Le ón-Arcia Nancy Pav ón-Fuentes Maria de Los Angeles Robinson-Agramonte Luis Vel ázquez-Pérez Source Type: research
A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia
Cerebellum. 2024 Feb 12. doi: 10.1007/s12311-024-01664-3. Online ahead of print.ABSTRACTSpinocerebellar 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 manifestations of SCATBP/STUB1 include not only ataxia but also obvious cognitive and behavioral impairment. Here, we describe a Chinese family with SCATBP/STUB1 and performed a literature search for similar cases. We identified a Chinese family with SCATBP/STUB1 and compare our clinical findings ...
Source: Cerebellum - February 11, 2024 Category: Neuroscience Authors: Lili Liu Juanjuan Chen Guogao Zhang Zhijian Lin Di Chen Jun Hu Source Type: research
Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome
Cerebellum. 2024 Feb 9. doi: 10.1007/s12311-024-01661-6. Online ahead of print.ABSTRACTKBG syndrome is a rare genetic disorder caused by heterozygous pathogenic variants in ANKRD11. Affected individuals have developmental delay, short stature, characteristic facial features, and other dysmorphic findings. To date, a spectrum of unspecific neuroradiological defects has been reported in KBG patients, such as cortical defects, white matter abnormalities, corpus callosum, and cerebellar vermis hypoplasia.Deep clinical and neuroradiological phenotyping and genotype of a patient presenting with mild cognitive and behavioral prob...
Source: Cerebellum - February 9, 2024 Category: Neuroscience Authors: Adelaide Carrara Camilla Mangiarotti Ludovica Pasca Davide Politano Fulvio D ' Abrusco Veronica Carmen Barbero Adriana Carpani Renato Borgatti Anna Pichiecchio Enza Maria Valente Romina Romaniello Source Type: research
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps
Cerebellum. 2024 Feb 7. doi: 10.1007/s12311-024-01666-1. Online ahead of print.ABSTRACTCerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive multisystem neurologic disorder caused by biallelic intronic repeats in RFC1. Although the phenotype of CANVAS has been expanding via diagnostic case accumulation, there are scant pedigree analyses to reveal disease penetrance, intergenerational fluctuations in repeat length, or clinical phenomena (including heterozygous carriers). We identified biallelic RFC1 ACAGG expansions of 1000 ~ repeats in three affected siblings having sensorimoto...
Source: Cerebellum - February 7, 2024 Category: Neuroscience Authors: Rumiko Izumi Hitoshi Warita Tetsuya Niihori Yoshihiko Furusawa Misa Nakano Yasushi Oya Kazuhiro Kato Takuro Shiga Kensuke Ikeda Naoki Suzuki Ichizo Nishino Yoko Aoki Masashi Aoki Source Type: research
Syndrome of Irreversible Lithium-Effectuated Neurotoxicity (SILENT): A Preventable Cerebellar Disorder
We report a case study of a 60-year-old man with bipolar disorder on stable lithium treatment who developed severe toxicity while admitted to ICU with sepsis and multiorgan failure. Despite unchanged lithium administration, his serum levels escalated due to renal dysfunction, resulting in lithium toxicity. After regaining consciousness, he exhibited a cerebellar syndrome marked by ataxia, tremor, and scanning speech. MRI revealed cerebellar atrophy. Following discontinuation of lithium and hemodialysis, the patient's symptoms remained static. The patient was diagnosed with syndrome of irreversible lithium-effectuated neuro...
Source: Cerebellum - February 6, 2024 Category: Neuroscience Authors: Sarah Marmol Nestor Beltre Jason Margolesky Source Type: research
New Horizon of Multiple System Atrophy Research
Cerebellum. 2024 Feb;23(1):1. doi: 10.1007/s12311-024-01667-0.NO ABSTRACTPMID:38307991 | DOI:10.1007/s12311-024-01667-0 (Source: Cerebellum)
Source: Cerebellum - February 2, 2024 Category: Neuroscience Authors: Shoji Tsuji Gregor Wenning Source Type: research
The Use of the Voice Trainer App for Vocal Control in People with a Degenerative Ataxia: A Pilot Intervention Study
Cerebellum. 2024 Jan 29. doi: 10.1007/s12311-024-01662-5. Online ahead of print.ABSTRACTDysarthria is disabling in persons with degenerative ataxia. There is limited evidence for speech therapy interventions. In this pilot study, we used the Voice trainer app, which was originally developed for patients with Parkinson's disease, as a feedback tool for vocal control. We hypothesized that patients with ataxic dysarthria would benefit from the Voice trainer app to better control their loudness and pitch, resulting in a lower speaking rate and better intelligibility. This intervention study consisted of five therapy sessions o...
Source: Cerebellum - January 29, 2024 Category: Neuroscience Authors: S Knuijt J Nonnekes B P C van de Warrenburg M Nijkamp S Scholten B J M de Swart J G Kalf Source Type: research
Efficacy of Cerebellar Transcranial Magnetic Stimulation for Post-stroke Balance and Limb Motor Function Impairments: Meta-analyses of Random Controlled Trials and Resting-State fMRI Studies
This study aimed to investigate the potential therapeutic effects of cerebellar transcranial magnetic stimulation (TMS) on balance and limb motor impairments in stroke patients. A meta-analysis of randomized controlled trials was conducted to assess the effects of cerebellar TMS on balance and motor impairments in stroke patients. Additionally, an activation likelihood estimation (ALE) meta-analysis was performed on resting-state functional magnetic resonance imaging (fMRI) studies to compare spontaneous neural activity differences between stroke patients and healthy controls using measures including the amplitude of low f...
Source: Cerebellum - January 27, 2024 Category: Neuroscience Authors: Yuheng Zeng Zujuan Ye Wanxin Zheng Jue Wang Source Type: research
Local Dynamic Stability of Trunk During Gait is Responsive to Rehabilitation in Subjects with Primary Degenerative Cerebellar Ataxia
This study aimed to assess the responsiveness to the rehabilitation of three trunk acceleration-derived gait indexes, namely the harmonic ratio (HR), the short-term longest Lyapunov's exponent (sLLE), and the step-to-step coefficient of variation (CV), in a sample of subjects with primary degenerative cerebellar ataxia (swCA), and investigate the correlations between their improvements (∆), clinical characteristics, and spatio-temporal and kinematic gait features. The trunk acceleration patterns in the antero-posterior (AP), medio-lateral (ML), and vertical (V) directions during gait of 21 swCA were recorded using a magn...
Source: Cerebellum - January 26, 2024 Category: Neuroscience Authors: Stefano Filippo Castiglia Dante Trabassi Carmela Conte Valeria Gioiosa Gabriele Sebastianelli Chiara Abagnale Alberto Ranavolo Cherubino Di Lorenzo Gianluca Coppola Carlo Casali Mariano Serrao Source Type: research
Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia
This study is to assess HRQoL progression and identify factors affecting SCA patients' HRQoL.METHODS: Longitudinal data (three-year follow-up) of 310 SCA patients of the European SCA3/Machado-Joseph-Disease Initiative (ESMI) (2016-2022) and 525 SCA patients (SCA1, SCA2, SCA3 or SCA6) of the EUROSCA natural history study cohort (2006-2015) were assessed. Both large cohort studies share standardized assessments of clinical measures, SARA, INAS, PHQ-9, and HRQoL (EQ-5D-3L). The association between HRQoL and clinical measures was assessed by Spearman Correlation (rs). Multivariable panel regression models were performed to eva...
Source: Cerebellum - January 26, 2024 Category: Neuroscience Authors: Niklas Weber Maresa Buchholz Anika R ädke Jennifer Faber Tanja Schmitz-H übsch Heike Jacobi Thomas Klockgether Wolfgang Hoffmann Bernhard Michalowsky EUROSCA study group ESMI study group Source Type: research
Cerebellar Neurostimulation for Boosting Social and Affective Functions: Implications for the Rehabilitation of Hereditary Ataxia Patients
Cerebellum. 2024 Jan 25. doi: 10.1007/s12311-023-01652-z. Online ahead of print.ABSTRACTBeyond motor deficits, spinocerebellar ataxia (SCA) patients also suffer cognitive decline and show socio-affective difficulties, negatively impacting on their social functioning. The possibility to modulate cerebello-cerebral networks involved in social cognition through cerebellar neurostimulation has opened up potential therapeutic applications for ameliorating social and affective difficulties. The present review offers an overview of the research on cerebellar neurostimulation for the modulation of socio-affective functions in both...
Source: Cerebellum - January 25, 2024 Category: Neuroscience Authors: Andrea Ciricugno Viola Oldrati Zaira Cattaneo Maria Leggio Cosimo Urgesi Giusy Olivito Source Type: research
Cerebellar-Induced Aphasia After Stroke: Evidence for the "Linguistic Cerebellum"
Cerebellum. 2024 Jan 20. doi: 10.1007/s12311-024-01658-1. Online ahead of print.ABSTRACTThe cerebellum is traditionally known to subserve motor functions. However, for several decades, the concept of the "cerebellar cognitive affective syndrome" has evolved. Studies in healthy participants and patients have confirmed the cerebellar role in language. The exact involvement of the cerebellum regarding cerebellar aphasia remains uncertain. We included 43 cerebellar stroke patients who were tested at 3 months post-onset with the Boston Naming Test (BNT), the Token Test (TT), and the Diagnostic Instrument for Mild Aphasia (DIMA)...
Source: Cerebellum - January 20, 2024 Category: Neuroscience Authors: Djaina Satoer Peter J Koudstaal Evy Visch-Brink Ruben S van der Giessen Source Type: research
