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…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…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…Long-term impact of lead poisoning on neurologic function in children and adolescents
Objective: To elucidate (1) whether prolonged effects of lead exposure are persistently reflected by impaired neurological parameters and (2) whether these outcomes can be attributed…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…GAA expansion with clinic/urodynamic findings in Friedreich’s ataxia with LUTS
Objective: This study correlate the number of GAA repetitions of alleles, the duration of the disease, and the age at the onset of the disease…The nucleocytoplasmic transport of ataxin-3 as pathogenic mechanism in spinocerebellar ataxia type 3
Objective: Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is a neurodegenerative disorder caused by a CAG expansion in the MJD1 gene leading to…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…Biochemical evaluation in patients with suspected ataxia related to CoQ10 deficiency
Objective: To investigate CoQ10 levels through skin fibroblasts in patients with suspected ataxia related to CoQ10 deficiency. Background: CoQ10 deficiency may cause complex forms of…Early clinical features of paraneoplastic cerebellar degeneration: Diagnostic outcomes of adult onset cerebellar ataxia
Objective: To investigate whether there are clinical features that would allow us to segregate between paraneoplastic cerebellar degeneration (PCD) from other adult onset cerebellar ataxia.…