Dean et al compare magnetic resonance imaging measurements of white matter myelin water fraction and gray matter volume in healthy infant carriers and noncarriers of the APOE ε4 allele, the major susceptibility gene for late-onset Alzheimer disease. See related Editorial by Growdon and Hyman.
Hong and coauthors image amyloid deposition in patients with traumatic brain injury using carbon 11–labeled Pittsburgh Compound B positron emission tomography and validate these findings using hydrogen 3–labeled Pittsburgh Compound B autoradiography and immunocytochemistry on autopsy-acquired tissue.
Anthony et al quantify dystrophin messenger RNA and protein expression in patients with DMD deletions treatable by, or mimicking, exon 44 or 45 skipping.
To describe the clinical presentation and progression of a new intermediate variant of glycogen branching enzyme deficiency, Paradas et al performed a clinical, biochemical, morphological, and molecular study of 2 patients with adult acute onset of neurological signs initially diagnosed as multiple sclerosis. Genotype-phenotype correlations are discussed.
Jiao et al determined the aquaporin 4 (AQP4) IgG detection rate using recombinant human APQ4–based assays in sequential serum specimens collected from patients with recurrent longitudinally extensive transverse myelitis (rLETM) categorized as negative by indirect immunofluorescence assay and defined the clinical characteristics and motor disability outcomes in AQP4-IgG–positive rLETM.
Weinstein and colleagues conducted a community-based, prospective cohort study to examine whether higher serum brain-derived neurotrophic factor (BDNF) levels in cognitively healthy adults protect against the future risk for dementia and Alzheimer disease and to identify potential modifiers of this association.
In a cross-sectional study of 44 participants with early-onset PD of long duration, Alcalay and coauthors assessed cognitive and motor performances, comparing homozygotes and compound heterozygotes who carry 2 PARKIN mutations with noncarriers.
Katz et al define the frequency, timing, and consequences of clinical worsening in patients with diagnosis of RCVS.
Grau-Rivera et al determine the frequency of antibodies against neuronal surface antigens in the cerebrospinal fluid of patients with suspected as well as pathologically confirmed Creutzfeldt-Jakob disease.
Yoo and Hirsch present the case of a 58-year-old man who had a rapid onset of progressive confusion, twitching of the face and hand, and abnormal basal ganglia detected by magnetic resonance imaging, which were initially diagnosed as Creutzfeldt-Jakob disease. Faciobrachial dystonic seizures had been misdiagnosed as myoclonus. Treatment led to a complete resolution of his symptoms.
Kefalopoulou et al report the very long-term outcome of 2 patients with Parkinson disease who received human fetal ventral mesencephalic neural grafts.
Witting et al describe a 61-year-old man with a highly atypical presentation of McArdle disease with severe paraspinal wasting and weakness.
Watzlawickand colleagues conducted a systematic review and meta-analysis of RhoA/Rho-associated coiled-coil containing protein kinase blocking approaches to (1) analyze the impact of bias that may lead to inflated effect sizes and (2) determine the normalized effect size of functional locomotor recovery after experimental thoracic spinal cord injury.
Recent studies in both human and animal models strongly suggest that activity in the cortex, especially in motor cortical areas, is directly altered by deep brain stimulation by signals traveling in an antidromic fashion from the subthalamic nucleus. Li and coauthors discuss the evidence for this proposition. See the editorial by Miocinovic.
Erroand colleagues describe a 76-year-old man who presented with a 4-year history of a progressive parkinsonian syndrome.