To describe the disease course of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS), Taieb and colleagues performed a nationwide study to collect clinical, magnetic resonance imaging, cerebrospinal fluid, and brain biopsy specimen characteristics of patients with CLIPPERS. Forty-two relapses among 12 patients were analyzed.
Using longitudinal registries from the Mayo Clinic and the Alzheimer’s Disease Neuroimaging Initiative, Jack et al characterize the shape of the trajectories of Alzheimer disease biomarkers as a function of Mini-Mental State Examination score.
Using a matrix-assisted laser desorption ionization time-of-flight mass spectrometry protein profiling analysis, Le Pera et al assess thymosin ß4 specificity as relevant to the diagnosis of Creutzfeldt-Jakob disease.
Rodda et al characterize changes in gait by age in patients with Dravet syndrome.
Jung and colleagues investigate loss of neurons in the nucleus basalis of Meynert in patients with subcortical ischemic vascular disease (SIVD) compared with healthy controls, patients with Alzheimer disease (AD), and patients with mixed AD and SIVD.
An observational study by Rosas et al was conducted to comprehensively evaluate and validate the distribution of metal deposition in the brain using advanced magnetic resonance imaging methods from the premanifest through symptomatic stages of Huntington disease.
Objective To explore the role of leucine-rich repeat transmembrane 3 (LRRTM3) in late-onset Alzheimer disease (AD) by independent genetic epidemiologic and functional studies.
Methods First, we explored associations between LRRTM3 single-nucleotide polymorphisms and AD in the National Institute on Aging Late-Onset Alzheimer's Disease case-control data set (993 patients and 884 control subjects) and a cohort of Caribbean Hispanics (549 patients and 544 controls) using single-marker and haplotype analyses. Then we explored the effect of LRRTM3 small-hairpin RNAs on amyloid precursor protein processing.
Results One single-nucleotide polymorphism in the promoter region (rs16923760; C allele: odds ratio, −0.74, P = .03), and a block of 4 single-nucleotide polymorphisms in intron 2 (rs1925608, C allele: 0.84, P = .04; rs7082306, A allele: 0.75, P = .04; rs1925609, T allele: 1.2, P = .03; and rs10997477, T allele: 0.88, P = .05) were associated with AD in the National Institute on Aging Late-Onset Alzheimer's Disease data set or the Caribbean Hispanic data set. The corresponding haplotypes were also associated with AD risk (.01< P < .05). In addition, LRRTM3 knockdown with small-hairpin RNAs caused a significant decrease in amyloid precursor protein processing (P < .05 to P < .01) compared with the scrambled small-hairpin RNA condition.
Conclusions These complementary findings support the notions that genetic variation in LRRTM3 is associated with AD risk and that LRRTM3 may modulate γ-secretase processing of amyloid precursor protein. Additional studies are needed to determine whether the specific alleles associated with differential risk for AD indeed confer this risk through an effect of LRRTM3 expression levels that in turn modulates amyloid precursor protein processing.
To determine the influence of age on Alzheimer disease (AD) course in a clinical trial setting, Bernick and colleagues studied 471 subjects with mild to moderate AD assigned to the placebo arm of 3 clinical trials conducted by the Alzheimer Disease Cooperative Study group. The trials were of 18-month duration.
Méneret and associates describe a case of serine synthesis defect due to 3phosphoglycerate dehydrogenase deficiency in an adult with prominent chronic polyneuropathy.
Anheim and coauthors describe 6 patients affected with Friedreich ataxia due to an exonic deletion mutation (FAexdel) and compare these 6 patients with FAexdel with 46 patients consecutively diagnosed with typical FA due to homozygous GAA expansion and whose small expansions were within the same range as that of the expansions of the patients with FAexdel.
Kojovic and coauthors report a 49-year-old right-handed male civil servant with genetically proven DYT1 dystonia who shows dramatic improvement in symptoms while playing the piano.
Potic and coauthors report a novel clinical and genetic presentation of a 20-year old male patient with 4H syndrome, which is a recently described leukodystrophy syndrome characterized by ataxia, hypomyelination, hypodontia, and hypogonadotropic hypogonadism.
Koyama and colleagues conducted a systematic review and meta-analysis of relevant prospective studies to determine whether plasma amyloid-ß levels may predict development of dementia, Alzheimer disease, and cognitive decline.
In a double-blind, placebo-controlled clinical trial, Galasko et al evaluate whether antioxidant supplements presumed to target specific cellular compartments affected cerebrospinal fluid biomarkers.
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