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In This Issue of JAMA Neurology |

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JAMA Neurol. 2013;70(7):817-819. doi:10.1001/jamaneurol.2013.2872.
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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.

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 groups.

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 adults.

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.





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