Complicated hereditary spastic paraplegia like presentation of homozygous c.2222G>A mutation in PLA2G6
Objective: To describe three cases of complicated hereditary spastic paraplegia (cHSP) like presentation in PLA2G6. Background: PLA2G6-associated neurodegeneration (PLAN) is a complex group of neurodegenerative…The genetic study of autosomal dominant spinocerebellar ataxia in Kazakhstan
Objective: To perform the genetic study of autosomal dominant spinocerebellar ataxia (ADSCA) cases from Kazakhstan. Background: Spinocerebellar ataxias (SCAs) is a large group of hereditary…Myoclonic epilepsy with ragged-red fibers: the first described clinical case in Ukraine
Objective: To provide a description of a case of myoclonic epilepsy with ragged-red fibers (MERRF) diagnosed in Kyiv, Ukraine. Background: MERRF is a rare mitochondrial…Whole exome sequencing in patients with undiagnosed ataxia in a Korean population
Objective: To investigate genetic causes of cerebellar ataxia in Korea using whole exome sequencing (WES) Background: Cerebellar ataxia encompasses a number of neurological conditions with…Association between ZNF184 and symptoms of Parkinson’s disease in southern Chinese
Objective: The aim was to investigate the association between ZNF184 and symptoms of Parkinson’s disease (PD) in southern Chinese. Background: Parkinson’s disease (PD) is a…Novel Mutation in the Protein Kinase C Gamma Gene Causing Spinocerebellar Ataxia-14 in a Large Family
Objective: To report a novel mutation not been previously reported in large, multi-ethnic general populations, in the protein kinase C gamma (PRKCG) gene causing spinocerebellar ataxia…Predictors of quality of life in Machado-Joseph disease: A longitudinal observational study
Objective: Determine the influence of clinical symptoms on QoL in patients with Machado-Joseph disease (MJD). Background: MJD is a rare inherited neurodegenerative disorder. Its phenotypical expression…Clinical characterization and disease progression in spinocerebellar ataxia type 35: A case series
Objective: To characterize the clinical presentation and disease progression of patients with spinocerebellar ataxia type 35 (SCA35). Background: Mutations in TGM6 have been identified to…Recessive CWF19L1 mutations in a family with dystonia-ataxia syndrome
Objective: To enrich the limited clinical and genetic data of an extremely rare recessive ataxia subtype. Background: Advances in NGS techniques led to an increase…Genetic, biochemical and clinical findingss in Friedreich’s ataxia patients – relationship with the disease severity
Objective: To investigate the correlation of disease severity in terms of clinical, genetic and molecular parameters in FRDA. Background: : Friedreich ataxia (FRDA) is a…
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