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Prenatal Diagnosis of Poretti-Boltshauser Syndrome – a Case Report of a Molar Tooth Sign Mimic
Prenatal Diagnosis of Poretti-Boltshauser Syndrome – a Case Report of a Molar Tooth Sign Mimic
We report the prenatal diagnosis of Poretti-Boltshauser Syndrome (PBS) in a 36-year-old primigravida woman. At 22 weeks an...
Acute Cerebellar Manifestations without Limbic Involvement in GABAB Receptor Autoimmune Encephalitis: Case Report and Literature Review
Acute Cerebellar Manifestations without Limbic Involvement in GABAB Receptor Autoimmune Encephalitis: Case Report and Literature Review
Autoimmune encephalitis is a rapidly progressive inflammatory brain disease. Gamma-aminobutyric acid type B (GABAB) recept...
Immune Checkpoint Inhibitor-Related Cerebellar Toxicity: Clinical Features and Comparison with Paraneoplastic Cerebellar Ataxia
Immune Checkpoint Inhibitor-Related Cerebellar Toxicity: Clinical Features and Comparison with Paraneoplastic Cerebellar Ataxia
Immune checkpoint inhibitors (ICIs) have revolutionized cancer therapy, and the association with immune-related adverse ev...
Cerebellar Theta Burst Stimulation Impairs Working Memory
Cerebellar Theta Burst Stimulation Impairs Working Memory
Working memory refers to the process of temporarily storing and manipulating information. The role of the cerebellum in wo...
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases
Gillespie syndrome is a rare disorder caused by pathogenic variants in ITPR1 gene and characterized by the typical associa...
Cerebellar Contributions to Traumatic Autobiographical Memory in People with Post-Traumatic Stress Disorder
Cerebellar Contributions to Traumatic Autobiographical Memory in People with Post-Traumatic Stress Disorder
Post-traumatic stress disorder (PTSD) is a debilitating mental health condition characterized by recurrent re-experiencing...
Polyneuropathy in Patients with Spinocerebellar Ataxias Types 2, 3, and 10: A Systematic Review
Polyneuropathy in Patients with Spinocerebellar Ataxias Types 2, 3, and 10: A Systematic Review
Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with a low prevalence, for which more than 50 typ...
Differential Effects of Continuous Theta Burst Stimulation over the Bilateral and Unilateral Cerebellum on Working Memory
Differential Effects of Continuous Theta Burst Stimulation over the Bilateral and Unilateral Cerebellum on Working Memory
Recent functional MRI studies have implicated the cerebellum in working memory (WM) alongside the prefrontal cortex. Some ...
Postmortem Fatty Acid Abnormalities in the Cerebellum of Patients with Essential Tremor
Postmortem Fatty Acid Abnormalities in the Cerebellum of Patients with Essential Tremor
Fatty acids play many critical roles in brain function but have not been investigated in essential tremor (ET), a frequent...
Pseudodominance in RFC1-Spectrum Disorder
Pseudodominance in RFC1-Spectrum Disorder
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and disease spectrum is an autosomal recessive disor...
Neuropsychiatric Symptoms in Rhombencephalosynapsis: A Clinical Report
Neuropsychiatric Symptoms in Rhombencephalosynapsis: A Clinical Report
Rhombencephalosynapsis (RES) is a hindbrain malformation characterized by a missing cerebellar vermis with apposition or f...
Investigating Cerebello-Frontal Circuits Associated with Emotional Prosody: A Double-Blind tDCS and fNIRS study
Investigating Cerebello-Frontal Circuits Associated with Emotional Prosody: A Double-Blind tDCS and fNIRS study
The emotional and cognitive cerebellum has been explored by several studies in the past years. Recent evidence suggested t...
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report
Spinocerebellar ataxias (SCAs) are characterized by substantial phenotypic variability. Among them, SCA42 is a rare non-ex...
Serum Neurofilament Light-Chain Concentrations in Essential Tremor: a Case–Control Study
Serum Neurofilament Light-Chain Concentrations in Essential Tremor: a Case–Control Study
Essential tremor (ET) is a common neurological disorder, with clinical and pathophysiological links to the cerebellum. Inq...
CAT Interruption as a Protective Factor in Chinese Patients with Spinocerebellar Ataxia Type 1
CAT Interruption as a Protective Factor in Chinese Patients with Spinocerebellar Ataxia Type 1
Spinocerebellar ataxia type 1 (SCA1) is the third most common type of spinocerebellar ataxias in China. CAT interruptions ...
A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis—Coincidental or Associated?
A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis—Coincidental or Associated?
Spinocerebellar ataxia type 2 (SCA2) is a dominantly inherited ataxia primarily characterised by progressive cerebellar sy...
Epidemiology of Spinocerebellar Ataxias in Europe
Epidemiology of Spinocerebellar Ataxias in Europe
Spinocerebellar ataxias (SCAs) are a heterogenous group of rare neurodegenerative conditions sharing an autosomal dominant...
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...
Cerebellar Asymmetry of Motivational Direction: Anger-Dependent Effects of Cerebellar Transcranial Direct Current Stimulation on Aggression in Healthy Volunteers
Cerebellar Asymmetry of Motivational Direction: Anger-Dependent Effects of Cerebellar Transcranial Direct Current Stimulation on Aggression in Healthy Volunteers
It has recently been theorized that the frontal asymmetry of approach- and avoidance-related motivation is mirrored in the...
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...
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