Explore the latest in progressive supranuclear palsy from The JAMA Network, including advances in understanding its epidemiology, etiology, diagnosis, and management.
This case-control study investigates the subregional pattern of striatal dopamine transporter loss in patients with pure akinesia with gait freezing in comparison with patients with progressive supranuclear palsy and those with Parkinson disease.
This clinical-pathological study characterizes the neurological, cognitive, and neuroimaging features of patients with nonfluent/agrammatic primary progressive aphasia—in whom either progressive supranuclear palsy or corticobasal degeneration was eventually confirmed at autopsy—at initial presentation and at 1-year follow-up and identifies features associated with underlying pathology.
This genotyping study finds that low-frequency coding variants with intermediate effect size may account for a significant fraction of the genetic susceptibility to AD and frontotemporal dementia.
Caroppo et al analyzed the DCTN1 gene in families with a progressive supranuclear palsy–like phenotype at a referral center among 21 patients. In addition, 8 patients and relatives from a family carrying a DCTN1 mutation were evaluated. Outcome measures were identification of the DCTN1 mutation and clinical description of DCTN1 mutation carriers.