Tadic and colleaguesArticle searched the MEDLINE database for patients with clinically typical dopa-responsive dystonia (DRD) and/or guanosine triphosphate cyclohydrolase I (GCH1) gene mutations from 1952 to 2011 and examined a pilot cohort of 23 outpatients with DRD and GCH1 mutations to investigate the delay in diagnosis, residual motor signs, and nonmotor signs of DRD.
Hakami et alArticle determine whether patients who fail their first antiepileptic drug (AED) have better neuropsychiatric and quality-of-life outcomes if substituted to levetiracetam monotherapy compared with a second older AED.
Kareus and colleaguesArticle used a computerized genealogy for the Utah pioneers and their descendants linked to a statewide cancer registry and statewide death certificates to estimate relative risks for cancer in individuals with Parkinson disease listed on their death certificate and among their first-degree, second-degree, and third-degree relatives. Editorial perspective is provided by Walter A. Rocca, MD, MPHArticle.
In a retrospective medical record review, Paterson et alArticle identify the misdiagnoses of patients with sporadic Jakob-Creutzfeldt disease during the course of their disease and determine which medical specialties saw patients with sporadic Jakob-Creutzfeldt disease prior to the correct diagnosis being made and at what point in the disease course a correct diagnosis was made. Editorial perspective is provided by Richard J. Caselli, MDArticle.
Using a 2-step genotyping strategy, Xi et alArticle estimate the allele frequency of C9orf72 (G4C2) repeats in amyotrophic lateral sclerosis, frontotemporal lobar degeneration, Alzheimer disease, and Parkinson disease.
In a repeated plasma and cerebrospinal fluid sampling study, Huang et alArticle investigate dynamic changes in human plasma β-amyloid concentrations, evaluate the effects of aging and amyloidosis on these dynamics, and determine their correlation with cerebrospinal fluid β-amyloid concentrations.
Klaas et alArticle evaluate 21 adults with opsoclonus-myoclonus syndrome (OMS) and review the literature to contribute to the sparse data available on adult-onset OMS. Paraneoplastic and parainfectious causes (particularly human immunodeficiency virus) should be considered. Complete remission achieved with immunotherapy is the most common outcome.
After a previous trial resulted in inaccurate assessment of diabetic sensorimotor polyneuropathy, Dyck et alArticle used more specific diagnostic criteria and compared findings with nerve conduction studies.
To describe the outcomes of intravenous thrombolysis or endovascular treatment in patients with stroke from acute cervical internal carotid artery occlusion, Seet and colleaguesArticle performed among 21 patients a retrospective study of the associations of vascular predictor variables with favorable functional recovery at 90 days after stroke.
In a longitudinal community-based epidemiological study of older adults from northern Manhattan, New York, Brickman et alArticle determine whether regional white matter hyperintensities and hippocampal volume predict incident Alzheimer disease.
For illustration, cumulative survival curves were generated that compared individuals with high white matter hyperintensity volumes in the parietal lobes, defined here as the top quartile (dotted line), with all other participants, defined as the bottom 3 quartiles (solid line). MRI indicates magnetic resonance imaging.
Kotagal and colleaguesArticle determine whether serotoninergic system degeneration in Parkinson disease (PD) promotes β-amyloid deposition, using in vivo positron emission tomographic probes of serotonin system integrity and β-amyloid deposition.
Hajjar and colleaguesArticle evaluate the impact of treatment with angiotensin receptor blockers (ARBs) on the neuropathology of Alzheimer disease (AD) in the National Alzheimer Coordinating Center database, which includes aggregated data and brain autopsies from 29 AD centers throughout the United States. Treatment with ARBs is associated with less AD-related pathology on autopsy evaluations.
This Month in Archives of Neurology. Arch Neurol. 2012;69(12):1543-1544. doi:10.1001/archneurol.2011.1489