Opsoclonus-Myoclonus-Ataxia Syndrome – Ljubljana University Children’s Hospital clinical series
Objective: Analysis of number, clinical characteristics and outcome of patients admitted to our department due to OMS in the past 25 years. Background: Opsoclonus-myoclonus-ataxia syndrome…Cerebellar ataxia and cutaneous lesions: a clinical case
Objective: Highlight the complex differential diagnosis of ataxia in a patient with cutaneous lesions. Background: Cerebellar ataxias may accompany neurocutaneous syndromes. XP is a rare…Sporadic progressive ataxia and palatal tremor: A case report
Objective: To report the clinical presentation and neuroimaging findings of sporadic PAPT. Background: Progressive ataxia and palatal tremor (PAPT) manifests as mid to late-adult onset slowly…Kinematic Gait Analysis in patients with ataxic disorders
Objective: To assess the kinematic gait parameters in patients with ataxia using gait analysis product “GAITRite”. Background: Ataxia is a disorder of balance and coordination…Epidemiological study of multiple system atrophy: data from HoRC-MSA Project 2014-2019
Objective: To investigate epidemiological aspects of multiple system atrophy (MSA) in Hokkaido, Japan from the data of the Hokkaido Rare-disease Consortium for MSA (HoRC-MSA). Background:…Ataxia with(out) oculomotor apraxia: A unique SETX mutation in 3 siblings
Objective: Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia due to SETX gene mutation characterized by progressive cerebellar atrophy, neuropathy,…Outcomes After Weighted Lumbosacral Orthosis (LSO) and Exercises in Patients with Progressive Cerebellar Ataxia
Objective: Readers will recognize the weighted lumbosacral orthosis (LSO) as a tool to enhance balance exercises to improve function in persons with progressive cerebellar ataxia.…A recessive repeat expansion causes CANVAS and is a common cause of Late-Onset Ataxia
Objective: To identify and characterize the genetic cause of common, idiopathic, cerebellar ataxia. Background: Late-onset ataxia is a common reason for neurological consultation, but its…Quantitative evaluation of gait ataxia of Multiple System Atrophy patients
Objective: To perform gait analysis on patients with multiple system atrophy (MSA) and assess whether the obtained data could be used as neurophysiological biomarkers. Background:…A descriptive study with molecular and cytogenetic analysis in patients of ataxia telangiectasia(AT) from the Indian subcontinent
Objective: To characterize the clinical and radiological phenotype in patients with AT and correlate with the genetic analysis. Background: AT is a rare autosomal recessive…
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