Ataxia and increased cerebrospinal fluid phosphate associated with a mutation in the SLC20A2 gene
Objective: To characterize the phenotype and biochemical abnormalities associated with the R467X mutation in the SLCA20A2 gene. Background: Mutations in the SLC20A2 gene are the…Differential peculiarities of cognitive disorders in Parkinson’s disease dementia and Vascular dementia
Objective: To study differential peculiarities of cognitive functions disorders in Parkinson's disease (PD) dementia and vascular dementia (VD). Background: 44 VD and 18 PD dementia…Screening of cognitive impairment in Huntington’s disease with the Parkinson’s Disease – Cognitive Rating Scale (PD-CRS)
Objective: To explore the psychometric properties of the PD-CRS as compared to two commonly used measures (the MMSE and the UHDRS Cognitive score) for detecting…Multimodal biomarkers as predictors of cognitive decline in Parkinson’s Disease
Objective: To identify a set of multimodal biomarkers to predict cognitive decline in non-demented Parkinson’s disease patients. Background: People with Parkinson’s Disease are at high…“Essential tremor” as a presenting symptom of neuronal intranuclear inclusion disease (NIID).
Objective: To describe a patient with late onset, sporadic NIID who had a tremor as his first complaint. Background: NIID is a rare, slowly progressive…Plasma Biomarkers in Idiopathic Normal Pressure Hydrocephalus
Objective: (1) To investigate the role of plasma biomarkers that is known to related to Alzheimer’s disease in INPH(2) To assess the diagnostic and prognostic…Prospective longitudinal CSF measurements and cognitive decline in GBA-associated Parkinsonism: not Abeta or Tau but Lewy body pathology?
Objective: To evaluate whether concomitant Ab and Tau pathology might contribute to the prominent cognitive decline in PD_GBA. Background: A considerable proportion of idiopathic Parkinson’s…Cerebrotendinous xanthomatosis without tendon xanthoma: a diagnostic challenge.
Objective: To describe the case of Cerebrotendinous xanthomatosis (CTX) without tendon xanthoma, highlighting the diagnostic challenge due to its rarity, as well as the importance…Genetic variations in Amyloid-beta1-42 clearance proteins determine onset of dementia in Parkinson’s disease and dementia with Lewy bodies
Objective: To evaluate whether genetic variants in genes known to be associated with Abeta1-42 clearance contribute to the interval between ages at onset of parkinsonism…Familial Creutzfeldt-Jakob Disease with an E200K Mutation in Peru: A Case Report
Objective: To describe the clinical and molecular features of a familial Creutzfeldt-Jakob Disease (fCJD) case in Peru. Background: Creutzfeldt - Jakob disease (CJD) is characterized…
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