Neuronal intranuclear inclusion disease tremor-dominant subtype: a mimicker of essential tremor
Objective: This study aimed to clarify the clinical phenotype in tremor-dominant patients having the GGC repeat expansion in the NOTCH2NLC gene. Background: The GGC repeat…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…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…Hereditary and geneological aspects of Parkinson’s disease and essential tremor in people of Uzbek nationality
Objective: To study the genealogic features of Parkinson’s disease and essential tremor in people of Uzbek nationality. Background: Parkinson's disease (PD) and essential tremor (ET)…Comorbid Parkinson’s disease in a Korean patient with Alexander’s disease
Objective: We report a unique case of genetically diagnosed Alexander's disease comorbid, with clinically diagnosed Parkinson's disease. Background: Alexander disease is a neurological disease, that causes…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.