Mixed Cerebellar Ataxia in a Patient with a Novel FAT2 Gene Variant Associated with SCA45
Objective: We describe a patient with late-onset ataxia, cognitive impairment, and parkinsonism with a novel missense variant in FAT2, a gene implicated in spinocerebellar ataxia…CANVAS and Sleep Disorder: a Prospective Cross-Sectional Study
Objective: Aim in this study is to characterize, for the first time, sleep and its disorders in patients with CANVAS genetically confirmed. Background: Cerebellar ataxia,…Pulmonary Dysfunction in Friedreich’s Ataxia (FRDA)
Objective: We sought to characterize pulmonary function in FRDA and identify disease variables that may contribute to dysfunction. Background: FRDA is a neurodegenerative disease that causes…Opsoclonus after Covid-19 infection
Objective: Describe the first Brazilian case of opsoclonus due to COVID-19 infection Background: Opsoclonus-myoclonus is a rare movement disorder associated with a variety of conditions,…Spinocerebellar Ataxia Type 4: a Novel Polyglycine Disease caused by GGC Repeat Expansion in ZFHX3.
Objective: Identification of the mutation causing SCA4. Background: SCA4 is an autosomal dominant disease, originally described in a large Utah pedigree, characterized by sensory and…Human cerebellum contributes to the motor frequency coding for essential tremor and volitional rhythmic movements
Objective: Tremor and volitional rhythmic movement are frequency-specific motions. However, it remains unclear which area of the central nervous system can process frequency information. This…Gene rearrangement as the cause of hereditary Hypomyelinating Leukodyistrophy disease type 5 (HLD5)
Objective: To define the clinical, neurophysiological, neuroimaging and pathological findings from a patient carrying a FAM126A homozygous exon 3-7 deletion. Background: Hypomyelinating leukodystrophies constitute a…Role of the direct subthalamo-cerebellar tract in memory and learning: Implications for the pathophysiology of late-stage Parkinson’s Disease
Objective: To study the role of the recently identified direct subcortical cerebellum basal ganglia (C-BG) network in the pathophysiology of Parkinson’s Disease (PD). Background: Even…Hemidystonia of cerebellar origin
Objective: To report the case of a patient developing hemidystonia in the course of cerebellar hemorrhage. Background: About 1-4% of strokes may include movement disorders,…Rare genetic and clinical presentation of SPG7-related Hereditary Spastic Paraplegia.
Objective: Describe a rare genetic and clinical presentation of SPG7-related Hereditary Spastic Paraplegia. Background: SPG7-related spastic paraplegia (SPG7) is a hereditary spastic paraplegia caused by…
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