Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi +6 more
wiley +1 more source
A neuroimmune-enriched multibiofluid proteomic index associated with cognitive-motor progression in early Parkinson's disease: a longitudinal PPMI cohort study. [PDF]
Wang H +6 more
europepmc +1 more source
Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay +15 more
wiley +1 more source
Astrocytes in Neurodegeneration: Spatial States, Crosstalk, and Emerging Therapies. [PDF]
Steger L, Rothhammer V, Zunke F.
europepmc +1 more source
ABSTRACT Objective Progression independent of relapse activity is a major determinant of long‐term disability in multiple sclerosis, but its immunopathologic basis remains incompletely understood. We investigated whether relapse‐independent progression in radiologically stable relapsing–remitting multiple sclerosis is associated with distinct ...
Antonio Bruno +19 more
wiley +1 more source
Phenotypic Diversity in Multiple Sclerosis Can Be Represented by Four Additive Symptom Modules. [PDF]
Hier DB, Srinivasula PY, Carrithers MD.
europepmc +1 more source
ABSTRACT Objective To evaluate the diagnostic accuracy of glial fibrillary acidic protein (GFAP) measured in dried plasma spots versus conventional plasma‐ and serum‐GFAP testing for assessment of disease severity in aquaporin‐4 immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4‐IgG+ NMOSD).
Felix Wohlrab +19 more
wiley +1 more source
A behavioral architecture for realistic simulations of <i>Drosophila</i> larva locomotion and foraging. [PDF]
Sakagiannis PP +2 more
europepmc +1 more source
Reserves, Injury Severity, and Outcomes in Traumatic Brain Injury: A CENTER‐TBI Observational Study
ABSTRACT Objective Reserve refers to the brain's ability to maintain function after an injury and strongly relates to traumatic brain injury (TBI) outcomes. This study examined (1) whether associations between pre‐injury reserve proxies and outcomes differed across injury severity categories, and (2) whether the impact of injury severity varied across ...
Natascha Ekdahl +6 more
wiley +1 more source
Psychometric evidence for assessing early childhood development in Brazil: the Child Development Diagnostic Form in the Criança Feliz Program. [PDF]
Cerqueira ES +7 more
europepmc +1 more source

