Utility of ataxia gene panel testing in diagnosing inherited ataxia: evaluation of an Irish cohort
Objective: To evaluate the utility of gene panel testing in a population of patients with genetically undetermined ataxia attending the Irish National Ataxia clinic. Background:…Balance in Spinocerebellar Ataxia (SCA): Comparison Between Type 10 and Type 3
Objective: To compare the balance in patients with SCA10 with SCA3. Background: Decreased balance and motor coordination are the main symptoms of Spinocerebellar Ataxias (SCA).…Spinocerebellar ataxia type-17: An Indian Scenario
Objective: We aimed to investigate status of SCA17 in Indian population and tried to minimise the category of unidentified cerebellar ataxia cases. Background: Spinocerebellar ataxia…Severity Assessment, Functional Capacity and Balance in Patients with Spinocerebellar Ataxias (SCAs): comparison between types 3 and 10.
Objective: To compare the differences in the evolution in terms of severity, functional independence and balance in patients with SCAs type 3 and 10 Background:…Autosomal Dominant Spinocerebellar Ataxia Secondary to CACNA1G in a Patient of German Ancestry
Objective: We describe the case of a male patient of German ancestry with SCA 42. Background: Hereditary spinocerebellar ataxia (SCA) describes a heterogeneous group of…99mTc -TRODAT- 1 SPECT SHOWING DOPAMINERGIC DEFICIENCY IN A PATIENT WITH SPINOCEREBELLAR ATAXIA TYPE 10 AND PARKINSONISM.
Objective: In this report, we describe a Brazilian patient with SCA10, with parkinsonism, with a 99Tc - TRODAT-1 SPECT demonstrating dopaminergic deficiency. Background: Spinocerebellar ataxia…Dr. Paula Coutinho’s Seminal Contributions to the Understanding of Machado-Joseph’s Disease
Objective: To recognize the contributions of Dr. Paula Coutinho to Neurology through her studies of Machado-Joseph’s disease (SCA3) Background: One of the unique opportunities in…Spinocerebellar Ataxia type 11 in a Hispanic Kindred
Objective: To present the clinical profiles of two siblings with SCA11 who are of Hispanic origin. Background: Spinocerebellar ataxia type 11 (SCA11) is an autosomal…The environmental and genetic risk factors in multiple system atrophy in a Taiwanese population
Objective: The etiology of MSA remains uncertain. Cholesterol and its metabolism derangements, α-Synuclein and CoQ2 genetic polymorphism have been disclosed to be associated with the…Changes in saccade performance with oculomotor task repetition in neurological disorders
Objective: To investigate short-term changes in saccade performance associated with repeated performance of oculomotor tasks in various neurological disorders and to elucidate the underlying neural…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.