Archives of Neurology

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ISSN / EISSN : 00039942 / 15383687
Current Publisher: American Medical Association (AMA) (10.1001)
Total articles ≅ 16,622
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Vikas Kotagal, Nicolaas I. Bohnen, Martijn L. T. M. Müller, Robert A. Koeppe, Kirk A. Frey, Roger L. Albin
Archives of Neurology, Volume 69, pp 1628-1631; doi:10.1001/archneurol.2012.764

Abstract:Prior studies suggest that serotoninergic neurotransmission reduces β-amyloid (Aβ) production. To determine whether serotoninergic system degeneration in Parkinson disease promotes Aβ deposition, using in vivo positron emission tomographic probes of serotonin system integrity and Aβ deposition. Cross-sectional study of 13 subjects with Parkinson disease from the movement disorders clinics at the University of Michigan Health System and Veterans Affairs Ann Arbor Healthcare System, with positron emission tomography using the serotonin transporter ligand carbon 11 ([11C])–labeled 3-amino-4-(2-dimethylaminomethyl-phenylsulfaryl)-benzonitrile (DASB) and the Aβ ligand [11C]Pittsburgh compound B. Inverse correlations were found between DASB and Pittsburgh compound B distribution volume ratios in the neocortex (ρ=−0.577; P=.04) and striatum (ρ=−0.780; P=.002). Serotoninergic system degeneration in Parkinson disease may promote the development of cerebral amyloidopathy.
Peter J. Dyck, Carol J. Overland, Phillip A. Low, William J. Litchy, Jenny L. Davies, P. James B. Dyck, Rickey E. Carter, L. Joseph Melton, Henning Andersen, James W. Albers, et al.
Archives of Neurology, Volume 69, pp 1609-1614; doi:10.1001/archneurol.2012.1481

Abstract:To repeat the Clinical vs Neurophysiology (Cl vs N Phys) trial using “unequivocally abnormal” signs and symptoms (Trial 2) compared with the earlier trial (Trial 1), which used “usual” signs and symptoms. Standard and referenced nerve conduction abnormalities were used in both Trials 1 and 2 as the standard criterion indicative of diabetic sensorimotor poly-neuropathy. Physician proficiency (accuracy among evaluators) was compared between Trials 1 and 2. Academic medical centers in Canada, Denmark, England, and the United States. Thirteen expert neuromuscular physicians. One expert was replaced in Trial 2. The marked overreporting, especially of signs, in Trial 1 was avoided in Trial 2. Reproducibility of diagnosis between days 1 and 2 was significantly (P=.005) better in Trial 2. The correlation of the following clinical scores with composite nerve conduction measures spanning the range of normality and abnormality was improved in Trial 2: pinprick sensation (P = .03), decreased reflexes (P = .06), touch-pressure sensation (P=.06), and the sum of symptoms (P=.06). The simple pretrial decision to use unequivocally abnormal signs and symptoms—taking age, sex, and physical variables into account—in making clinical judgments for the diagnosis of diabetic sensorimotor polyneuropathy (Trial 2) improves physician proficiency compared with use of usual elicitation of signs and symptoms (Trial 1); both compare to confirmed nerve conduction abnormality.
Zhengrui Xi, Lorne Zinman, Yakov Grinberg, Danielle Moreno, Christine Sato, Juan M. Bilbao, Mahdi Ghani, Isabel Hernandez, Agustin Ruiz, Merce Boada, et al.
Archives of Neurology, Volume 69, pp 1583-1590; doi:10.1001/archneurol.2012.2016

Abstract:To estimate the allele frequency of C9orf72 (G4C2) repeats in amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), Alzheimer disease (AD), and Parkinson disease (PD). The number of repeats was estimated by a 2-step genotyping strategy. For expansion carriers, we sequenced the repeat flanking regions and obtained APOE genotypes and MAPT H1/H2 haplotypes. Hospitals specializing in neurodegenerative disorders. We analyzed 520 patients with FTLD, 389 patients with ALS, 424 patients with AD, 289 patients with PD, 602 controls, 18 families, and 29 patients with PD with the LRRK2 G2019S mutation. The expansion frequency. Based on a prior cutoff (>30 repeats), the expansion was detected in 9.3% of patients with ALS, 5.2% of patients with FTLD, and 0.7% of patients with PD but not in controls or patients with AD. It was significantly associated with family history of ALS or FTLD and age at onset of FTLD. Phenotype variation (ALS vs FTLD) was not associated with MAPT, APOE, or variability in the repeat flanking regions. Two patients with PD were carriers of 39 and 32 repeats with questionable pathological significance, since the 39-repeat allele does not segregate with PD. No expansion or intermediate alleles (20–29 repeats) were found among the G2019S carriers and AD cases with TAR DNA-binding protein 43–positive inclusions. Surprisingly, the frequency of the 10-repeat allele was marginally increased in all 4 neurodegenerative diseases compared with controls, indicating the presence of an unknown risk variation in the C9orf72 locus. The C9orf72 expansion is a common cause of ALS and FTLD, but not of AD or PD. Our study raises concern about a reliable cutoff for the pathological repeat number, which is important in the utility of genetic screening.
Myron F. Weiner
Archives of Neurology, Volume 69; doi:10.1001/archneurol.2012.2703

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Sara Ortega-Cubero, Pablo D. Domínguez, Carlos Caicedo, Javier Arbizu, Pau Pastor
Archives of Neurology, Volume 69; doi:10.1001/archneurol.2012.304

Caterina Garone, Juan Carlos Rubio, Sarah E. Calvo, Ali Naini, Kurenai Tanji, Salvatore DiMauro, Vamsi K. Mootha, Michio Hirano
Archives of Neurology, Volume 69, pp 1648-1651; doi:10.1001/archneurol.2012.405

Abstract:To identify the cause of an adult-onset multisystemic disease with multiple deletions of mitochondrial DNA (mtDNA). Case report. University hospitals. A 65-year-old man with axonal sensorimotor peripheral neuropathy, ptosis, ophthalmoparesis, diabetes mellitus, exercise intolerance, steatohepatopathy, depression, parkinsonism, and gastrointestinal dysmotility. Skeletal muscle biopsy revealed ragged-red and cytochrome-c oxidase–deficient fibers, and Southern blot analysis showed multiple mtDNA deletions. No deletions were detected in fibroblasts, and the results of quantitative polymerase chain reaction showed that the amount of mtDNA was normal in both muscle and fibroblasts. Exome sequencing using a mitochondrial library revealed compound heterozygous MPV17 mutations (p.LysMet88-89MetLeu and p.Leu143*), a novel cause of mtDNA multiple deletions. In addition to causing juvenile-onset disorders with mtDNA depletion, MPV17 mutations can cause adult-onset multisystemic disease with multiple mtDNA deletions.
Vera Tadić, Meike Kasten, Norbert Brüggemann, Sophie Stiller, Johann Hagenah, Christine Klein
Archives of Neurology, Volume 69; doi:10.1001/archneurol.2012.574

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Archives of Neurology, Volume 69; doi:10.1001/archneur.69.12.1540

Archives of Neurology, Volume 69; doi:10.1001/archneurol.2011.1489

Richard J. Caselli
Archives of Neurology, Volume 69; doi:10.1001/2013.jamaneurol.1