FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer +6 more
wiley +1 more source
Diagnostic challenges in multiple system atrophy
Diana Obelieniene,1 Sandra Bauzaite,1 Ilona Kulakiene,2 Evaldas Keleras,2 Indre Eitmonaite,3 Daiva Rastenyte1 1Department of Neurology, 2Department of Radiology, 3Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania Abstract ...
Obelieniene D +5 more
doaj
A comprehensive resource for induced pluripotent stem cells from patients with primary tauopathies [PDF]
Primary tauopathies are characterized neuropathologically by inclusions containing abnormal forms of the microtubule-associated protein tau (MAPT) and clinically by diverse neuropsychiatric, cognitive, and motor impairments.
Cairns, Nigel J +7 more
core +1 more source
Behavioral and Neurophysiological Effects of Transdermal Rotigotine in Atypical Parkinsonism [PDF]
Effective therapies for the so-called atypical parkinsonian syndrome (APS) such as multiple system atrophy (MSA), progressive supranuclear palsy (PSP), or corticobasal syndrome (CBS) are not available.
Davide Vito Moretti +3 more
core +2 more sources
Multireceptor fingerprints in progressive supranuclear palsy
Background Progressive supranuclear palsy (PSP) with a frontal presentation, characterized by cognitive deficits and behavioral changes, has been recognized as an early clinical picture, distinct from the classical so-called Richardson and parkinsonism ...
Wang Zheng Chiu +7 more
doaj +1 more source
The binaural masking level difference: cortical correlates persist despite severe brain stem atrophy in progressive supranuclear palsy. [PDF]
Under binaural listening conditions, the detection of target signals within background masking noise is substantially improved when the interaural phase of the target differs from that of the masker.
Carlyon, Robert P +5 more
core +3 more sources
Abstract Background Continuous subcutaneous apomorphine infusion (CSAI) is effective in Parkinson's disease but has not been evaluated in multiple system atrophy (MSA). Objective To assess the 6‐month efficacy and tolerability of CSAI in MSA patients. Methods French multicenter retrospective registry‐based analysis of CSAI use in MSA.
Simon Lamy +16 more
wiley +1 more source
Simultaneous mixed phenotype and neuroimaging of progressive supranuclear palsy, progressive ataxia and palatal tremor: two different faces of tauopathies. [PDF]
Freitas LF +4 more
europepmc +1 more source
Early and Differential Diagnosis of Dementia and Mild Cognitive Impairment Design and Cohort Baseline Characteristics of the German Dementia Competence Network [PDF]
Background: The German Dementia Competence Network (DCN) has established procedures for standardized multicenter acquisition of clinical, biological and imaging data, for centralized data management, and for the evaluation of new treatments.
Frölich, Lutz +21 more
core +1 more source
Mind the Gap: Predictors of Osteoporosis Treatment Following Fragility Fracture in Parkinsonism
Abstract Background Fracture risk is increased in Parkinson's yet this risk is often not addressed. Objectives Our objective was to study the extent to which osteoporosis was treated, and predictors of treatment in a large representative cohort with parkinsonism.
Katie C. Naylor +2 more
wiley +1 more source

