Clinical and Dopaminergic Characteristics of MSA-C Patients with Predominant Cerebellar Asymmetry
Objective: To identify multiple system atrophy–cerebellar type (MSA-C) patients with marked cerebellar asymmetry and compare their features with symmetrically affected patients. Background: While asymmetry is…Novel SPTAN1 Variant in Adult-Onset Cerebellar Ataxia in Active Duty Military Member
Objective: The objective is to investigate the genetic basis of cerebellar ataxia and identify a novel variant associated with this condition in an active-duty military…Adult-onset ataxia with oculomotor apraxia type 4 with severe hypoalbuminemia, generalized edema and obesity
Objective: To report a 45-years-old Swedish man born to non-consanguineous parents affected by an adult-onset syndrome that included insidious pain at onset, hypoalbuminemia, edema, severe…The FGF14-SCA27B GAA•TTC Repeat Shows Marked Somatic Expansion in the Cerebellum
Objective: To characterize somatic instability and molecular mechanisms of the FGF14 GAA•TTC repeat across serial blood samples, fibroblasts, induced pluripotent stem cells (iPSCs), and post-mortem brains. Background: Spinocerebellar…Resting-state EEG analysis defines the signature of CACNA1A and GAA-FGF14 related channelopathies
Objective: The aim of this study was to investigate EEG metrics in patients with CACNA1A and GAA-FGF14 related diseases and to compare them with those…Fixel Analysis of Diffusion Imaging in Cerebellar Tracts as a Quantitative Marker of Disease Progression in Spinocerebellar Ataxia
Objective: This study aimed to identify white matter changes in the brain of presymptomatic and early-stage SCA1 and SCA3 mutation carriers using fixel-based analysis of…Two-year longitudinal evaluation of ataxia and brain structural changes in RFC1-related disorder
Objective: To describe the evolutionary pattern of brain structural changes in patients with RFC1-related disorder. Background: Specific brain structural changes have been described in patients…Autosomal recessive spastic ataxia of Charlevoix–Saguenay: Case report with 3 family members affected.
Objective: Report a case of ARSACS in a patient with 2 siblings also affected Background: Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare…Movement disorders in Brain Sagging Syndrome- A Systematic Review
Objective: Objective: This study aims to systematically review the array of movement disorders observed in patients diagnosed with brain sagging syndrome (BSS) secondary to spontaneous…Cognitive flexibility associates with atrophy and disrupted connectivity of the cognitive cerebellum in degenerative cerebellar ataxia
Objective: This study was to investigate the features of cognitive flexibility in patients with degenerative cerebellar ataxia, and to identify the pathophysiological correlates of cognitive…
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