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L266V Gene Mutation Associated With Frontotemporal Dementia, Progressive Supranuclear Palsy, and Corticobasal Syndrome.
J Neuropsychiatry Clin Neurosci
January 2025
Departments of Psychiatry (Rivas-Grajales) and Neurology (Han, Wang), Boston University Chobanian & Avedisian School of Medicine, Boston; Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston (Greenstein, Shih).
Background: Idiopathic normal pressure hydrocephalus (iNPH) and progressive supranuclear palsy (PSP) are considered to be different pathologies, but they have similar clinical features such as cognitive dysfunction and gait disturbance. Therefore, it is difficult to understand between the two diseases in actual clinical practice. The aim of study is whether the indivisual characteristic in MRI is useful to devide into two groups.
View Article and Find Full Text PDFBackground: Progressive supranuclear palsy (PSP) can present with different clinical variants which show distinct, but partially overlapping, patterns of neurodegeneration and tau deposition in a PSP network of regions, including cerebellar dentate, superior cerebellar peduncle, midbrain, thalamus, basal ganglia, and frontal lobe. We sought to determine whether disruptions in functional connectivity within this PSP network measured using resting-state functional MRI (rs-fMRI) differed between PSP-Richardson's syndrome and the cortical and subcortical variants of PSP.
Method: Structural MRI and rs-fMRI scans were collected for 40 PSP-RS, 24 PSP-cortical (12 speech and language; 10 corticobasal syndrome; 2 frontal) and 36 PSP-subcortical (18 parkinsonism; 11 progressive gait freezing; 6 postural instability; 1 oculomotor) participants who met the Movement Disorder Society PSP clinical criteria (Table 1).
Background: Microhemorrhages and superficial siderosis (SS) have been reported in patients with mild cognitive impairment (MCI) and dementia, especially in the context of Alzheimer's disease (AD) and cerebrovascular disease. Cerebral amyloid angiopathy and small vessel disease (SVD) have both been implicated in microhemorrhages and SS but their prevalence in those with MCI and dementia and their relationship to SVD is unknown.
Method: We conducted a retrospective chart review of patients with MCI or dementia that had undergone MRI scans from 2014 To 2023.
Background: Positrons Emission Tomography associated with Computed Tomography - PET/CT using the 18F-fluorodeoxyglucose is a well-established exam for the context of dementia evaluation. However, FDG PET is a method still unavailable in most centers and diagnostic accuracy depends on the development of a flowchart that involves proper indication by clinicians and specialized evaluation by nuclear medicine specialists. Our study aims to investigate the indications of FDG PET in the differential diagnosis of dementia in a single center; secondarily, to evaluate how this method aided the diagnostic process.
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