POLR3A Leukodystrophy presenting with levodopa responsive parkinsonism
Objective: This is a case of a 51-year-old lady with POLR3A related leukodystrophy and secondary dopa responsive parkinsonism. Background: Neurologic symptoms began 15 years ago…APOE, TREM2 and LINGO1 genes: A possible implication in cognition in essential tremor in a Tunisian population
Objective: To investigate the effect of polymorphisms in APOE, TREM2 and LINGO1 genes on the cognitive profile of essential tremor(ET) in Tunisian population. Background: ET…Incidence of essential tremor depending on gender, age and debut of the disease
Objective: To study the incidence of essential tremor depending on gender, age and debut of the disease in Uzbek nationality. Background: Clinical manifestation of essential…Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients and controls: the PPMI study
Objective: To test the correlations between longitudinal measurements of glucocerebrosidase (GCase; encoded by GBA) enzymatic activity and Parkinson’s disease (PD) phenotype in the Parkinson’s Progression…Northwestern University Feinberg School of Medicine Parkinson’s disease and Movement Disorders Center Biorepository: bringing the clinic and lab together
Objective: To establish a biobank of DNA and tissue samples from a population of movement disorder patients, their family members and healthy controls recruited from…Association between SNCA and clinical phenotypes of Parkinson’s disease in southern Chinese
Objective: The aim was to investigate the association between SNCA and clinical phenotypes of Parkinson’s disease (PD) in southern Chinese. Background: SNCA gene plays an…SNPs in SNCA, MCCC1, DLG2, GBF1, and MBNL2 are associated with Parkinson’s disease in southern Chinese populations
Objective: This study aimed to replicate the relationship between 12 novel SNPs of 12 genes and PD risk in southern Chinese populations. Background: Numerous single-nucleotide polymorphisms (SNPs), which have…Early onset parkinsonism and optic atrophy due to SLC25A46 mutations
Objective: To define the genetic background of a case affected by parkinsonism with optic atrophy. Background: Mutations in SLC25A46 have been recently described as causative…Tremor and parkinsonism in Chromosomopathies – a systematic review
Objective: To review the co-occurrence of parkinsonism and tremor syndromes in patients with chromosomic disorders. Background: The landscape of genetic forms of Parkinson’s diseases (PD)…LRP10 variants and Parkinson’s disease in the Chinese population
Objective: LRP10 variants have recently been identified in individuals with familial Parkinson's disease (PD) and dementia with Lewy bodies. We aim to investigate if any…