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…Assessment of graphomotor impairment in patients with Spinocerebellar ataxia and Parkinson’s disease
Objective: The study aimed to assess the kinematic characteristics of handwriting in patients with Spinocerebellar ataxia (SCA) and to compare it with patients with Parkinson's disease…Audiological Evaluation in Sporadic Ataxia
Objective: to describe the audiological and electrophysiological results in patients with sporadic ataxia (SA). Background: Patients with adult onset non-familial progressive ataxia are classified in…Induced pluripotent stem cells based in-vitro modelling of Spinocerebellar Ataxia type -12 (SCA-12).
Objective: To derive neuronal lineages from patient’s peripheral blood mononuclear cells (PBMCs) and exploration of disease biology. Background: Spinocerebellar ataxia type-12 (SCA-12) is a progressive cerebellar…Targeting the intracellular localization of Ataxin-3 as novel treatment strategy for Spinocerebellar Ataxia Type 3
Objective: Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is an autosomal-dominantly inherited neurodegenerative disorder caused by a CAG expansion in the ATXN3 gene…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.