Do mutations in the TGM6 (SCA35) gene cause early-onset Parkinson’s disease?
Objective: To identify the genetic cause of early-onset Parkinson's disease (EOPD) in a Serbian family. Background: Hereditary EOPD is a genetically heterogeneous neurodegenerative disorder, characterized…A largest case series study of spinocerebellar ataxia type 2(SCA2) from India: Do SCA2 clinical subtypes exists?
Objective: To study the extent of phenotypic variability in SCA2 families of Indian origin and to identify factors associated with it. Background: SCA2 is a…Two siblings with action myoclonus renal failure syndrome
Objective: To describe two cases of the rare action myoclonus renal failure syndrome. Background: Action Myoclonus Renal Failure syndrome (AMRF) is characterized by neurological symptoms…Clinical and analytical validation of novel autosomal recessive ataxia mutations identified from whole exome sequencing
Objective: To establish clinical significance of novel recessive ataxia mutations by phenotype-genotype correlation and screening of mutations in second cohort of recessive ataxia patients and…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.