Modelling spinocerebellar ataxia 15 with iPS cell derived neurons
Objective: Here we set out to study the cellular pathology of ITPR1-deletions underlying SCA15 in a human model of iPSC-derived cortical neurons. Background: Spinocerebellar Ataxia…Hereditary spastic paraplegia caused by heterozygous AFG3L2 and SPG7 mutations
Objective: To report a new late-onset autosomal recessive spastic paraplegia caused by heterozygous mutations in the AFG3L2 and SPG7 genes. Background: The hereditary spastic paraplegias…Movement disorders are the common signs as the first neurological deficit in cases with spinocerebellar ataxia type 2 (SCA2)
Objective: We studied neurological signs in cases with SCA2 for early diagnosis. Background: SCA2 is a classification of hereditary ataxia, however, patients with SCA2 have…A novel causal mutation for spinocerebellar ataxia 19/22 (SCA19)
Objective: We report a novel cause for SCA19. We obtained longitudinal exam data on the index case, and data on other family members. We conducted…Sporadic cerebellar ataxia associated with hypogonadotropic hypogonadism and PNPLA6 gene mutation. Case report in a Brazilian patient
Objective: The aim of this study is to describe a case report of a Brazilian patient with sporadic cerebellar ataxia, associated with hypogonadotropic hypogonadism, and…Neurologic phenotipic variability in spinocerebelar ataxia hype 2 (SCA2)
Objective: Describe the clinical findings of a Brazilian cohort of SCA2 patients, stratify them according the presence of sub-phenotypes: cognitive deterioration, sensory loss, amiotrophy, parkinsonism…Peripheral insulin sensitivity and body composition alterations in early stage Machado Joseph disease
Objective: To describe body composition and peripheral sensitivity to insulin (PSI) in early stage and presymptomatic spinocerebellar ataxia type 3/Machado Joseph disease (SCA3/MJD) individuals and…Spinocerebellar ataxia 17: First observation in Russia
Objective: To report the detection of the first case of spinocerebellar ataxia 17 in Russian population. Background: Autosomal dominant spinocerebellar ataxias (AD SCAs) are clinically…Magnetic resonance imaging in spinocerebellar ataxias: A systematic review
Objective: To perform a systematic review about quantitative central nervous system (CNS) magnetic resonance imaging (MRI) techniques findings in patients with Polyglutamine expansion (PolyQ) spinocerebellar…Clinical and imaging characteristics of spinocerebellar ataxia type 14 defined in a German multi-center sample
Objective: To give a concise description of clinical and imaging features of spinocerebellar ataxia type 14 (SCA14). Background: Since its genetic definition in 2003, the…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.