The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes
Cerebellum. 2023 Oct 31. doi: 10.1007/s12311-023-01620-7. Online ahead of print.ABSTRACTCerebellar syndromes are clinically and etiologically heterogeneous and can be classified as hereditary, neurodegenerative non-hereditary, or acquired. Few data are available on the frequency of each form in the clinical setting. Growing interest is emerging regarding the genetic forms caused by triplet repeat expansions. Alleles with repeat expansion lower than the pathological threshold, termed intermediate alleles (IAs), have been found to be associated with disease manifestation. In order to assess the relevance of IAs as a cause of...
Source: Cerebellum - October 31, 2023 Category: Neuroscience Authors: Elena Capacci Silvia Bagnoli Giulia Giacomucci Costanza Maria Rapillo Alessandra Govoni Valentina Bessi Cristina Polito Irene Giotti Alice Brogi Elisabetta Pelo Sandro Sorbi Benedetta Nacmias Camilla Ferrari Source Type: research
The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes
Cerebellum. 2023 Oct 31. doi: 10.1007/s12311-023-01620-7. Online ahead of print.ABSTRACTCerebellar syndromes are clinically and etiologically heterogeneous and can be classified as hereditary, neurodegenerative non-hereditary, or acquired. Few data are available on the frequency of each form in the clinical setting. Growing interest is emerging regarding the genetic forms caused by triplet repeat expansions. Alleles with repeat expansion lower than the pathological threshold, termed intermediate alleles (IAs), have been found to be associated with disease manifestation. In order to assess the relevance of IAs as a cause of...
Source: Cerebellum - October 31, 2023 Category: Neuroscience Authors: Elena Capacci Silvia Bagnoli Giulia Giacomucci Costanza Maria Rapillo Alessandra Govoni Valentina Bessi Cristina Polito Irene Giotti Alice Brogi Elisabetta Pelo Sandro Sorbi Benedetta Nacmias Camilla Ferrari Source Type: research
A Novel Paired Somatosensory-Cerebellar Stimulation Induces Plasticity on Cerebellar-Brain Connectivity
Cerebellum. 2023 Oct 28. doi: 10.1007/s12311-023-01622-5. Online ahead of print.ABSTRACTThe cerebellum receives and integrates a large amount of sensory information that is important for motor coordination and learning. The aim of the present work was to investigate whether peripheral nerve and cerebellum paired associative stimulation (cPAS) could induce plasticity in both the cerebellum and the cortex. In a cross-over design, we delivered right median nerve electrical stimulation 25 or 10 ms before applying transcranial magnetic stimulation over the cerebellum. We assessed changes in motor evoked potentials (MEP), somato...
Source: Cerebellum - October 28, 2023 Category: Neuroscience Authors: Francesca Ginatempo Nicoletta Manzo Danny A Spampinato Nicola Loi Francesca Burgio John C Rothwell Franca Deriu Source Type: research
Quantitative Speech Assessment in Ataxia-Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Markers
Cerebellum. 2023 Oct 28. doi: 10.1007/s12311-023-01623-4. Online ahead of print.ABSTRACTDysarthria is a common and debilitating symptom of many neurodegenerative diseases, including those resulting in ataxia. Changes to speech lead to significant reductions in quality of life, impacting the speaker in most daily activities. Recognition of its importance as an objective outcome measure in clinical trials for ataxia is growing. Its viability as an endpoint across the disease spectrum (i.e. pre-symptomatic onwards) means that trials can recruit ambulant individuals and later-stage individuals who are often excluded because of...
Source: Cerebellum - October 28, 2023 Category: Neuroscience Authors: Adam P Vogel Anna Sobanska Anoopum Gupta Gessica Vasco Marcus Grobe-Einsler Susanna Summa Stephanie Borel Source Type: research
A Novel Paired Somatosensory-Cerebellar Stimulation Induces Plasticity on Cerebellar-Brain Connectivity
Cerebellum. 2023 Oct 28. doi: 10.1007/s12311-023-01622-5. Online ahead of print.ABSTRACTThe cerebellum receives and integrates a large amount of sensory information that is important for motor coordination and learning. The aim of the present work was to investigate whether peripheral nerve and cerebellum paired associative stimulation (cPAS) could induce plasticity in both the cerebellum and the cortex. In a cross-over design, we delivered right median nerve electrical stimulation 25 or 10 ms before applying transcranial magnetic stimulation over the cerebellum. We assessed changes in motor evoked potentials (MEP), somato...
Source: Cerebellum - October 28, 2023 Category: Neuroscience Authors: Francesca Ginatempo Nicoletta Manzo Danny A Spampinato Nicola Loi Francesca Burgio John C Rothwell Franca Deriu Source Type: research
Quantitative Speech Assessment in Ataxia-Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Markers
Cerebellum. 2023 Oct 28. doi: 10.1007/s12311-023-01623-4. Online ahead of print.ABSTRACTDysarthria is a common and debilitating symptom of many neurodegenerative diseases, including those resulting in ataxia. Changes to speech lead to significant reductions in quality of life, impacting the speaker in most daily activities. Recognition of its importance as an objective outcome measure in clinical trials for ataxia is growing. Its viability as an endpoint across the disease spectrum (i.e. pre-symptomatic onwards) means that trials can recruit ambulant individuals and later-stage individuals who are often excluded because of...
Source: Cerebellum - October 28, 2023 Category: Neuroscience Authors: Adam P Vogel Anna Sobanska Anoopum Gupta Gessica Vasco Marcus Grobe-Einsler Susanna Summa Stephanie Borel Source Type: research
A Novel Paired Somatosensory-Cerebellar Stimulation Induces Plasticity on Cerebellar-Brain Connectivity
Cerebellum. 2023 Oct 28. doi: 10.1007/s12311-023-01622-5. Online ahead of print.ABSTRACTThe cerebellum receives and integrates a large amount of sensory information that is important for motor coordination and learning. The aim of the present work was to investigate whether peripheral nerve and cerebellum paired associative stimulation (cPAS) could induce plasticity in both the cerebellum and the cortex. In a cross-over design, we delivered right median nerve electrical stimulation 25 or 10 ms before applying transcranial magnetic stimulation over the cerebellum. We assessed changes in motor evoked potentials (MEP), somato...
Source: Cerebellum - October 28, 2023 Category: Neuroscience Authors: Francesca Ginatempo Nicoletta Manzo Danny A Spampinato Nicola Loi Francesca Burgio John C Rothwell Franca Deriu Source Type: research
Quantitative Speech Assessment in Ataxia-Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Markers
Cerebellum. 2023 Oct 28. doi: 10.1007/s12311-023-01623-4. Online ahead of print.ABSTRACTDysarthria is a common and debilitating symptom of many neurodegenerative diseases, including those resulting in ataxia. Changes to speech lead to significant reductions in quality of life, impacting the speaker in most daily activities. Recognition of its importance as an objective outcome measure in clinical trials for ataxia is growing. Its viability as an endpoint across the disease spectrum (i.e. pre-symptomatic onwards) means that trials can recruit ambulant individuals and later-stage individuals who are often excluded because of...
Source: Cerebellum - October 28, 2023 Category: Neuroscience Authors: Adam P Vogel Anna Sobanska Anoopum Gupta Gessica Vasco Marcus Grobe-Einsler Susanna Summa Stephanie Borel Source Type: research
Therapeutic Biomarkers in Friedreich's Ataxia: a Systematic Review and Meta-analysis
Cerebellum. 2023 Oct 27. doi: 10.1007/s12311-023-01621-6. Online ahead of print.ABSTRACTAlthough a large array of biomarkers have been investigated in Friedreich's ataxia (FRDA) trials, the optimal biomarker for assessing disease progression or therapeutic benefit has yet to be identified. We searched PubMed, MEDLINE, and EMBASE databases up to June 2023 for any original study (with ≥ 5 participants and ≥ 2 months' follow-up) reporting the effect of therapeutic interventions on any clinical, cardiac, biochemical, patient-reported outcome measures, imaging, or neurophysiologic biomarker. We also explored the biomarkers'...
Source: Cerebellum - October 27, 2023 Category: Neuroscience Authors: Maria Gavriilaki Evangelia Chatzikyriakou Maria Moschou Marianthi Arnaoutoglou Ioanna Sakellari Vasilios K Kimiskidis Source Type: research
Monocular Torsional Oscillopsia in Dentato-olivary Disconnection
Cerebellum. 2023 Oct 27. doi: 10.1007/s12311-023-01626-1. Online ahead of print.ABSTRACTMonocular torsional eye oscillations are a rare form of disconjugate nystagmus and the underlying pathophysiology is not well understood. Here, we present and discuss a case with disabling torsional oscillopsia in one eye only. The patient exhibited (i) spontaneous pendular torsional nystagmus of the left eye and (ii) rhythmic involuntary movements of the soft palate and uvula, consistent with the syndrome of oculopalatal tremor with monocular nystagmus. Brain MRI revealed an infarct of the left dentate nucleus in the cerebellum and, mo...
Source: Cerebellum - October 27, 2023 Category: Neuroscience Authors: Evangelos Anagnostou Stathis Gerakoulis Georgios Armenis Athena Zachou Georgios Velonakis Source Type: research
Therapeutic Biomarkers in Friedreich's Ataxia: a Systematic Review and Meta-analysis
Cerebellum. 2023 Oct 27. doi: 10.1007/s12311-023-01621-6. Online ahead of print.ABSTRACTAlthough a large array of biomarkers have been investigated in Friedreich's ataxia (FRDA) trials, the optimal biomarker for assessing disease progression or therapeutic benefit has yet to be identified. We searched PubMed, MEDLINE, and EMBASE databases up to June 2023 for any original study (with ≥ 5 participants and ≥ 2 months' follow-up) reporting the effect of therapeutic interventions on any clinical, cardiac, biochemical, patient-reported outcome measures, imaging, or neurophysiologic biomarker. We also explored the biomarkers'...
Source: Cerebellum - October 27, 2023 Category: Neuroscience Authors: Maria Gavriilaki Evangelia Chatzikyriakou Maria Moschou Marianthi Arnaoutoglou Ioanna Sakellari Vasilios K Kimiskidis Source Type: research
Monocular Torsional Oscillopsia in Dentato-olivary Disconnection
Cerebellum. 2023 Oct 27. doi: 10.1007/s12311-023-01626-1. Online ahead of print.ABSTRACTMonocular torsional eye oscillations are a rare form of disconjugate nystagmus and the underlying pathophysiology is not well understood. Here, we present and discuss a case with disabling torsional oscillopsia in one eye only. The patient exhibited (i) spontaneous pendular torsional nystagmus of the left eye and (ii) rhythmic involuntary movements of the soft palate and uvula, consistent with the syndrome of oculopalatal tremor with monocular nystagmus. Brain MRI revealed an infarct of the left dentate nucleus in the cerebellum and, mo...
Source: Cerebellum - October 27, 2023 Category: Neuroscience Authors: Evangelos Anagnostou Stathis Gerakoulis Georgios Armenis Athena Zachou Georgios Velonakis Source Type: research
Reducing the Risks of Nuclear War: the Role of Health Professionals
Cerebellum. 2023 Oct 25. doi: 10.1007/s12311-023-01599-1. Online ahead of print.NO ABSTRACTPMID:37878145 | DOI:10.1007/s12311-023-01599-1 (Source: Cerebellum)
Source: Cerebellum - October 25, 2023 Category: Neuroscience Authors: Kamran Abbasi Parveen Ali Virginia Barbour Kirsten Bibbins-Domingo Marcel Gm Olde Rikkert Andy Haines Ira Helfand Richard Horton Bob Mash Arun Mitra Carlos Monteiro Elena N Naumova Eric J Rubin Tilman Ruff Peush Sahni James Tumwine Paul Yonga Chris Zielin Source Type: research
NR1 Splicing Variant NR1a in Cerebellar Granule Neurons Constitutes a Better Motor Learning in the Mouse
In this study, we found that motor training could specially upregulate the expression level of NR1a, a splicing form of NR1 subunit. Interestingly, overexpression of this splicing variant in a cerebellar granule cell-specific manner dramatically elevated the NMDAR binding activity. Furthermore, the NR1a transgenic mice did not only show an enhanced motor learning, but also exhibit a higher efficacy for motor training in motor learning. Our results suggested that as a "junior" receptor, NR1a facilitates NMDAR activity as well as motor skill learning.PMID:37880519 | DOI:10.1007/s12311-023-01614-5 (Source: Cerebellum)
Source: Cerebellum - October 25, 2023 Category: Neuroscience Authors: Ting Tan Linyan Jiang Zhengxiao He Xuejiao Ding Xiaoli Xiong Mingxi Tang Yuan Chen Yaping Tang Source Type: research
Reducing the Risks of Nuclear War: the Role of Health Professionals
Cerebellum. 2023 Oct 25. doi: 10.1007/s12311-023-01599-1. Online ahead of print.NO ABSTRACTPMID:37878145 | DOI:10.1007/s12311-023-01599-1 (Source: Cerebellum)
Source: Cerebellum - October 25, 2023 Category: Neuroscience Authors: Kamran Abbasi Parveen Ali Virginia Barbour Kirsten Bibbins-Domingo Marcel Gm Olde Rikkert Andy Haines Ira Helfand Richard Horton Bob Mash Arun Mitra Carlos Monteiro Elena N Naumova Eric J Rubin Tilman Ruff Peush Sahni James Tumwine Paul Yonga Chris Zielin Source Type: research
