Supportive treatments for Ataxia, a Randomized Control Trial
Objective: The objective of this study is to evaluate the effectiveness of supporting treatments that improve awareness and the quality of patient life and counsel…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…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…Two novel ANO10 mutations causing adult-onset autosomal recessive spinocerebellar ataxia
Objective: Clinical and genetic characterization of a patient Background: In recent years mutations more than 100 different genes have been shown to underlie spinocerebellar ataxias.…Exergame training in Early Onset Ataxia patients
Objective: In ambulant EOA children, we aimed to study the effect of a medically designed “ice-skating exergame” on balance, posture and muscle force parameters 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,…Polysomnographic features of Spinocerebellar Ataxia type 3 – a case report
Objective: To describe, through a case report, the range of abnormal sleep patterns of Spinocerebellar Ataxia type 3 (SCA3). Background: SCA3 is a progressive neurodegenerative…Brain MRI-based discrimination between multiple system atrophy type cerebellar from other late onset sporadic cerebellar ataxias: a prospective study with implications for diagnosis criteria
Objective: To evaluate, in patients with sporadic late-onset cerebellar ataxia (SLOCA), the discriminative value of each of the magnetic resonance imaging (MRI) features for the…Cockayne Syndrome manifesting as late adult onset cerebellar ataxia: expanding the phenotype
Objective: To report an atypical case of Cockayne Syndrome manifesting as pure adult onset cerebellar ataxia. Background: Cockayne Syndrome (CS) is a rare autosomal recessive…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.