Citations

ABSTRACTBackgroundAs part of the CurePSP brain donation program, a questionnaire was developed to gather basic clinical information on donors; however, its usefulness has not been evaluated.ObjectiveTo assess the value of information obtained from the questionnaire in differentiating between parkinsonian disorders.MethodsWe reviewed 150 questionnaires, including 50 patients, each with a neuropathologic diagnosis of Lewy body disease (LBD), multiple system atrophy (MSA), or progressive supranuclear palsy. The frequency of clinical features recorded in the questionnaires was compared for the three disorders, and a machine learning algorithm was used to identify features predicting neuropathologic diagnosis.ResultsThe information from the questionnaires correlated with core clinical features for each disorder, such as hallucinations for LBD and autonomic dysfunction for MSA. Hallucinations and disorientations were identified as the key variables that contributed most to the prediction of neuropathology.ConclusionThe questionnaire provides useful clinical information for clinicopathological correlative studies.

AbstractBackgroundPerry disease (or Perry syndrome [PS]) is a hereditary neurodegenerative disorder inevitably leading to death within few years from onset. All previous cases with pathological confirmation were caused by mutations within the cytoskeleton‐associated protein glycine‐rich (CAP‐Gly) domain of the DCTN1 gene.ObjectivesThis paper presents the first clinicopathological report of PS due to a novel DCTN1 mutation outside the CAP‐Gly domain.MethodsClinical and pathological features of the new variant carrier are compared with another recently deceased PS case with a well‐known pathogenic DCTN1 mutation and other reported cases.Results and ConclusionsWe report a novel DCTN1 mutation outside the CAP‐Gly domain that we demonstrated to be pathogenic based on clinical and autopsy findings.