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Prevalence of Undiagnosed Polyglutamine Disease
There are at least 9 hereditary neurodegenerative polyglutamine diseases; however, many individuals who are carriers of polyglutamine disease–associated alleles are not symptomatic and therefore remain undiagnosed. In an observational cross-sectional study using data from 5 European studies that included DNA samples from more than 14 000 participants without a known polyglutamine disease diagnosis, Gardiner and coauthors found that the prevalence of intermediate alleles was 10.7% and that the prevalence of pathological alleles was 1.3%. The prevalence of carriers with intermediate and pathological ranges of polyglutamine disease–associated gene variants is considerably higher than previously estimated, suggesting that a larger portion of the population might be at risk of developing a clinical polyglutamine disease. Editorial perspective is provided by Hammer and Singleton.
Antiplatelets vs Anticoagulants in Cervical Artery Dissection
Cervical dissection (of the extracranial carotid and vertebral arteries) is an important cause of stroke, particularly in younger individuals. In a randomized clinical trial, Markus and coauthors randomized 250 patients within 1 week of symptom onset (118 carotid and 132 vertebral) to antiplatelet therapy or to anticoagulant therapy. At 1 year, the risk of recurrent stroke was much lower than has been reported in some observational studies. There was no difference between antiplatelet and anticoagulant therapy in the risk of recurrent stroke or in recanalization assessed on repeated imaging at 3 months, suggesting that there is no advantage to use of anticoagulants in this population.
Thrombectomy in Transferred Patients in the Late Window
Studies have suggested that patients with stroke who present first to endovascular therapy (EVT)–capable centers have better outcomes than patients who transfer more than 6 hours later. In a subgroup analysis of 182 patients from the Endovascular Therapy Following Imaging Evaluation for Ischemic Stroke 3 trial from 38 centers (121 transferred patients), based on clinical features and perfusion imaging criteria, 92 patients were randomized to EVT and medical therapy and 90 were randomized to medical therapy alone. The functional independence rates at 90 days were similar (45% in transferred patients and 44% in those presenting directly to the EVT-capable center). These findings have significant health care implications indicating that transferring potential candidates for late-window thrombectomy is associated with substantial clinical benefit and should be strongly encouraged.
Continuing Medical Education
MAPT Subhaplotypes, PSP, and Severity of Tau Pathology
Over the last 10 years, the role of genetics in progressive supranuclear palsy (PSP), including mutations in the microtubule-associated protein tau (MAPT) gene, has become clearer. In a large case-control study of 802 patients with PSP from the Mayo Clinic brain bank and 1312 control patients at Mayo Clinic, Heckman and coauthors identified 3 additional MAPT H1 subhaplotypes that are associated with an increased risk of PSP and with severity of tau pathology. It appears that MAPT haplotypic variation might play a role in both PSP susceptibility and tau pathology severity.
Highlights. JAMA Neurol. 2019;76(6):629. doi:10.1001/jamaneurol.2018.2991
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