Publications by authors named "D J Dickson"
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.
View Article and Find Full Text PDFObjectives: 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.
Genetic variants in TMEM106B, coding for a transmembrane protein of unknown function, have been identified as critical genetic modulators in various neurodegenerative diseases with a strong effect in patients with frontotemporal degeneration. The luminal domain of TMEM106B can form amyloid-like fibrils upon proteolysis. Whether this luminal domain is generated under physiological conditions and which protease(s) are involved in shedding remain unclear.
View Article and Find Full Text PDFBackground: Alzheimer's disease (AD) is characterized by the presence of neurofibrillary tangles made of hyperphosphorylated tau and senile plaques composed of beta-amyloid. These pathognomonic deposits have been implicated in the pathogenesis, although the molecular mechanisms and consequences remain undetermined. UFM1 is an important, but understudied ubiquitin-like protein that is covalently attached to substrates.
View Article and Find Full Text PDFArticle Synopsis
- This study investigates the limitations of the 2011 consensus criteria for primary progressive aphasia (PPA), specifically focusing on features of logopenic variant PPA and aiming to refine the classification system based on clinical and neuroimaging data.
- A retrospective analysis of 102 PPA patients revealed a predominance of repetition-preserved variants over repetition-impaired ones, suggesting different clinical courses and potential prodromal stages among the subgroups identified (pure-LPA, Wernicke-like, anomic-like, and TCSA-like).
- Neuroimaging showed consistent left temporoparietal atrophy across groups, with severe hypometabolism linked to repetition deficits, while pathologically, 70% of patients had Alzheimer's disease, with varying