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-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset
-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset
The VPS13 family plays a crucial role in mitochondrial stabilization. Biallelic pathogenic variants in VPS13D are classica...
Progression of Gait Ataxia in Spinocerebellar Ataxia Type 2: Clinical Utility of Digitally Measured Gait Metrics
Progression of Gait Ataxia in Spinocerebellar Ataxia Type 2: Clinical Utility of Digitally Measured Gait Metrics
Identifying digital biomarkers for gait ataxia remains a key research priority in spinocerebellar ataxias (SCAs), given th...
The Cerebellar Neuropsychiatric Rating Scale Version 2: Development and Validation
The Cerebellar Neuropsychiatric Rating Scale Version 2: Development and Validation
The affective component of the cerebellar cognitive affective / Schmahmann syndrome (CCAS) reflects neuropsychiatric sympt...
The Cerebellar Cognitive Affective Syndrome in Essential Tremor Plus
The Cerebellar Cognitive Affective Syndrome in Essential Tremor Plus
The latest tremor classification suggested to stratify patients with Essential Tremor (ET) into pure (pET) and plus (ET-pl...
Anti-Tr/DNER Antibody-Associated Paraneoplastic Neurological Syndrome Complicated with Warthin Tumor: a Case Report and Literature Review
Anti-Tr/DNER Antibody-Associated Paraneoplastic Neurological Syndrome Complicated with Warthin Tumor: a Case Report and Literature Review
Generally, paraneoplastic neurological syndrome (PNS) associated with anti-delta/notch-like epidermal growth factor-relate...
Evaluating Repetitive Transcranial Magnetic Stimulation in Spinocerebellar Ataxia: A Meta-Analysis of Efficacy and Safety
Evaluating Repetitive Transcranial Magnetic Stimulation in Spinocerebellar Ataxia: A Meta-Analysis of Efficacy and Safety
To evaluate the efficacy and safety of repetitive Transcranial Magnetic Stimulation (rTMS) in Spinocerebellar Ataxia (SCA)...
Effect of Aminopyridines on Oculomotor Dysfunction in Anti-GAD Ataxia: A Brief Report
Effect of Aminopyridines on Oculomotor Dysfunction in Anti-GAD Ataxia: A Brief Report
Aminopyridines (APs) enhance Purkinje cell excitability and are effective for several cerebellar and ocular motor syndrome...
Pontine Functional Connectivity Gradients
Pontine Functional Connectivity Gradients
The cerebellum contributes to a wide range of motor and non-motor functions through its extensive connections with much of...
Genetic Insights in Hindbrain Abnormalities Through Network Analysis Expose Key Biological Pathways in Hindbrain Development
Genetic Insights in Hindbrain Abnormalities Through Network Analysis Expose Key Biological Pathways in Hindbrain Development
The number of known developmental disorders affecting the hindbrain is rapidly increasing due to advances in neuroimaging ...
Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia
Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia
The diagnosis of hereditary ataxias caused by repeat expansions continue to present unique methodological challenges, espe...
Examining the Cerebral-Cerebellar Connectivity During Spelling Tasks
Examining the Cerebral-Cerebellar Connectivity During Spelling Tasks
The cerebellum has long been implicated in language processes, but its precise role in spelling subcomponents such as orth...
Seizures Reprogram Cerebellar Purkinje Neurons: A Multivariate Electrophysiological Classification Reveals Hidden Subtypes
Seizures Reprogram Cerebellar Purkinje Neurons: A Multivariate Electrophysiological Classification Reveals Hidden Subtypes
Purkinje neurons (PNs), the sole output neurons of the cerebellar cortex, control motor activity, cortical excitability, a...
Personal Social Network Analysis in Cerebellar Ataxia: Exploring Correlations with Quality of Life and Functional Outcomes
Personal Social Network Analysis in Cerebellar Ataxia: Exploring Correlations with Quality of Life and Functional Outcomes
Patients with cerebellar ataxia experience fatigue, impaired executive function, and psychosocial deficits. Personal socia...
Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous  Mutations: Case Series and Literature Review
Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous Mutations: Case Series and Literature Review
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disorder characterized by multisystem in...
Efficacy of Cerebellar Transcranial Direct Current Stimulation in Degenerative Ataxia. A Sham-Controlled Clinical and Quantitative Analysis
Efficacy of Cerebellar Transcranial Direct Current Stimulation in Degenerative Ataxia. A Sham-Controlled Clinical and Quantitative Analysis
Neurodegenerative ataxias represent a heterogeneous group of disorders lacking effective treatments. This double-blind, sh...
A Rare Case of Anti-Yo Positive Paraneoplastic Limbic Encephalitis Associated with Thyroid–Parathyroid Adenoma
A Rare Case of Anti-Yo Positive Paraneoplastic Limbic Encephalitis Associated with Thyroid–Parathyroid Adenoma
Paraneoplastic neurological syndromes (PNS) are typically associated with malignant neoplasms. The anti-Yo antibody is cla...
Scale for Ocular Motor Disorders in Ataxia (SODA) in Patients with Multiple System Atrophy
Scale for Ocular Motor Disorders in Ataxia (SODA) in Patients with Multiple System Atrophy
A clinical scale fully dedicated to evaluating ocular motor abnormalities is required for now. We investigated the utility...
Metabolic Determinants of Cerebellar Circuit Formation and Maintenance
Metabolic Determinants of Cerebellar Circuit Formation and Maintenance
Cells configure their metabolism in a synchronized and timely manner to meet their energy demands throughout development a...
Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study
Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study
Mobility limitations, including a decrease in walking speed, are major issues for people with autosomal recessive spastic ...
Cerebellar Direct Current Stimulation Reveals the Causal Role of the Cerebellum in Temporal Prediction
Cerebellar Direct Current Stimulation Reveals the Causal Role of the Cerebellum in Temporal Prediction
Temporal prediction (TP) influences our perception and cognition. The cerebellum could mediate this multi-level ability in...
Knockdown of the Non-canonical Wnt Gene Prickle2 Leads to Cerebellar Purkinje Cell Abnormalities While Cerebellar-Mediated Behaviors Remain Intact
Knockdown of the Non-canonical Wnt Gene Prickle2 Leads to Cerebellar Purkinje Cell Abnormalities While Cerebellar-Mediated Behaviors Remain Intact
Autism spectrum disorders (ASD) involve brain wide abnormalities that contribute to a constellation of symptoms including ...
The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias
The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias
The Cerebellar Cognitive Affective/Schmahmann Syndrome (CCAS) manifests as impaired executive control, linguistic processi...
The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients
The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients
Spinocerebellar ataxia 19 (SCA19) represents a rare autosomal dominant genetic disorder resulting in progressive ataxia an...
Patient-Related Outcome Measures for Oculomotor Symptoms in the Cerebellar Ataxias: Insights from Non-Cerebellar Disorders
Patient-Related Outcome Measures for Oculomotor Symptoms in the Cerebellar Ataxias: Insights from Non-Cerebellar Disorders
In patients with cerebellar ataxia (CA), symptoms related to oculomotor dysfunction significantly affect quality of life (...
Early-Life Social Determinants of SCA6 Age at Onset, Severity, and Progression
Early-Life Social Determinants of SCA6 Age at Onset, Severity, and Progression
SCA6 patients with the same size CAG repeat allele can vary significantly in age at onset (AAO) and clinical progression. ...
Progressive Ataxia and Palatal Tremor Is Not Associated with IgLON5 Antibodies: Results From Two Cases
Progressive Ataxia and Palatal Tremor Is Not Associated with IgLON5 Antibodies: Results From Two Cases
Progressive ataxia and palatal tremor (PAPT) and anti-IgLON5 disease share possible clinical presentations. Furthermore, b...
The Role of the Cerebellum in Learning to Predict Reward: Evidence from Cerebellar Ataxia
The Role of the Cerebellum in Learning to Predict Reward: Evidence from Cerebellar Ataxia
Recent findings in animals have challenged the traditional view of the cerebellum solely as the site of motor control, sug...
Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia
Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia
Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder that affects upper and lower motor neurons. SOD1 mutat...