White matter hyperintensities and TDP-43 pathology in Alzheimer's disease.

Introduction: Greater white matter hyperintensities (WMHs) on magnetic resonance imaging (MRI) are seen with transactive response DNA-binding protein 43 (TDP-43) pathology in frontotemporal lobar degeneration (FTLD-TDP). WMH associations with TDP-43 pathology in Alzheimer's disease (AD-TDP) remain unclear.

Methods: A total of 157 participants from Mayo Clinic Rochester with autopsy-confirmed AD, known TDP-43 status, and antemortem fluid-attenuated inversion recovery (FLAIR) MRI were included.

Longitudinal FDG-PET Metabolic Change Along the Lewy Body Continuum.

Importance: Although 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) is a well-established cross-sectional biomarker of brain metabolism in dementia with Lewy bodies (DLB), the longitudinal change in FDG-PET has not been characterized.

Objective: To investigate longitudinal FDG-PET in prodromal DLB and DLB, including a subsample with autopsy data, and report estimated sample sizes for a hypothetical clinical trial in DLB.

Design, Setting, And Participants: Longitudinal case-control study with mean (SD) follow-up of 3.

TDP-43 Cryptic RNAs in Perry Syndrome: Differences across Brain Regions and TDP-43 Proteinopathies.

Background: Perry syndrome (PS) is a rare and fatal hereditary autosomal dominant neurodegenerative disorder caused by mutations in dynactin (DCTN1). PS brains accumulate inclusions positive for ubiquitin, transactive-response DNA-binding protein of 43 kDa (TDP-43), and to a lesser extent dynactin.

Objectives: Little is known regarding the contributions of TDP-43, an RNA binding protein that represses cryptic exon inclusion, in PS.

Widespread Distribution of α-Synuclein Oligomers in -related Parkinson's Disease.

Mutations in leucine-rich repeat kinase 2 () are the most common cause of familial and sporadic Parkinson's disease (PD). While the clinical features of -PD patients resemble those of typical PD, there are significant differences in the pathological findings. The pathological hallmark of definite PD is the presence of α-synuclein (αSYN)-positive Lewy-related pathology; however, approximately half of -PD cases do not have Lewy-related pathology.

Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature.

Objectives: In this study, we describe a 54-year-old Indian woman who presented with clinical features of Kufs syndrome A (KSA) and Kufs syndrome B (KSB), as well as neuropathologic and genetic findings consistent with neuronal ceroid lipofuscinosis type 13 (CLN13). Subsequently, we review the clinicopathologic features of 20 patients with CLN13 reported in the literature.

Methods: Data and imaging were obtained from the patient's medical records.