Vissing, and colleagues evaluate the use of muscle biopsy vs blood-based enzymatic assays in the
diagnosis of late-onset Pompe disease.
Alloush and Weisleder review the literature on membrane repair in the past decade, considering
recent discoveries of genes associated with the membrane repair process in skeletal muscle and the
implications for treatment of muscular dystrophy.
In a retrospective cohort study, Rangaraju and coauthors assess whether patients with
intracranial large-vessel occlusions who received intra-arterial therapy have smaller final infarct
volumes than patients who received either intravenous tissue plasminogen activator therapy or no
reperfusion therapy. Editorial perspective is provided by Adams and Froehler.
EditorialAuthor Audio Interview
Continuing Medical Education
In an observational study based on Safe Implementation of Treatment in Stroke International
Stroke Thrombolysis Register (SITS-ISTR) data during the period from 2002 to 2011, Ahmed and
coauthors compare outcomes of patients who were treated within 4.5 to 6 hours or within 3 to 4.5
hours of the onset of an ischemic stroke with outcomes of patients who were treated within 3 hours
in the SITS-ISTR.
Palacios et al studied functional magnetic resonance imaging (MRI) abnormalities in signal
amplitude and brain connectivity at rest and their relationship to cognitive outcome in patients
with chronic and severe traumatic axonal injury.
To determine if patients having Parkinson disease (PD) with vs without GBA
mutations differ in clinical phenotype or plasma protein expression, Chahine et al performed a
case-control study. Clinical characteristics were compared between groups, and biochemical profiling
of 40 plasma proteins was performed to identify proteins that differed in expression between
Savica et al investigate the incidence and distribution of specific types of parkinsonism and
related proteinopathies in the general population.
Cosentino et al determine whether families with exceptional longevity are protected against
cognitive impairment consistent with Alzheimer disease.
Guerreiro et al sequenced a large cohort of adult-onset leukodystrophy cases to better understand
the genetic role of mutations in CSF1R.
Friedman et al used brain magnetic resonance spectroscopy to examine the neurochemical effects of
growth hormone–releasing hormone in adults with mild cognitive impairment and in healthy older
Andlauer et al determine the diagnostic accuracy and clinical utility of nocturnal rapid eye
movement sleep latency (REML) measures in narcolepsy/hypocretin deficiency.
Doré et al investigated the topographical relationship of Aβ deposition, gray matter
atrophy, and memory impairment in asymptomatic individuals with Alzheimer disease pathology as
assessed by Pittsburgh compound B positron emission tomography.
Highlights. JAMA Neurol. 2013;70(7):817-819. doi:10.1001/jamaneurol.2013.2872