Perrault syndrome: CLPP-Knock-Out mouse brain shows accumulation of mitoribosomes
Objective: We aimed to document the alterations of pathways and molecules that underlie brain pathology in the Perrault syndrome. Background: Perrault syndrome is an autosomal…SPG7 related spastic ataxia differs according to the presence of the A510V variant
Objective: To characterize phenotype-genotype correlation in patients with two SPG7 variants, supported by a post mortem study. Background: The SPG7 gene was the first identified…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…Quantitative evaluation of gait ataxia by triaxial accelerometers is more sensitive than SARA within 1.5 years.
Objective: An appropriate biomarker for spinocerebellar degeneration (SCD) is needed. Background: Previously we reported that the average amplitude of medial-lateral of straight gait gained by…Blink reflex recovery cycle in patients with genetically determined ataxias
Objective: To investigate the R2 blink reflex recovery cycle (BRRC) in genetically determined ataxias such as spinocerebellar ataxia (SCA), ataxia telangiectasia (AT) and Friedreich"s ataxia…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:…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…
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