Archives of neurology最新文献

{"title":"The cradle of american neurology: the harvard neurological unit at the Boston city hospital.","authors":"Olaf Stüve","doi":"10.1001/archneurol.2012.1822","DOIUrl":"https://doi.org/10.1001/archneurol.2012.1822","url":null,"abstract":"","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.1822","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31496296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypothermia, hypotension, hypersomnia, and obesity associated with hypothalamic lesions in a patient positive for the anti-aquaporin 4 antibody: a case report and literature review.","authors":"Keisuke Suzuki,&nbsp;Toshiki Nakamura,&nbsp;Kenichi Hashimoto,&nbsp;Masayuki Miyamoto,&nbsp;Tomoko Komagamine,&nbsp;Takahide Nagashima,&nbsp;Naoki Izawa,&nbsp;Takashi Kanbayashi,&nbsp;Toshiyuki Takahashi,&nbsp;Koichi Hirata","doi":"10.1001/archneurol.2012.300","DOIUrl":"https://doi.org/10.1001/archneurol.2012.300","url":null,"abstract":"<p><strong>Objective: </strong>To describe a patient positive for the anti-aquaporin 4 antibody with hypothalamic lesions showing hypothermia, hypotension, hypersomnia, and obesity.</p><p><strong>Design: </strong>Case report.</p><p><strong>Setting: </strong>University hospital.</p><p><strong>Patient: </strong>We describe a 21-year-old woman who was positive for anti-aquaporin 4 antibody and presented with hypothermia, hypotension, and hypersomnia owing to bilateral hypothalamic lesions as the only abnormal clinical finding.</p><p><strong>Results: </strong>Immediate steroid administration resulted in significant improvement of the patient's vital signs and imaging findings; however, her cognitive impairment and sleepiness persisted, and she subsequently developed obesity. Decreased cerebrospinal fluid orexin levels and sleep studies confirmed the diagnosis of narcolepsy due to medical condition. Physicians should be aware that neuromyelitis optica spectrum disorders can initially involve the hypothalamus.</p><p><strong>Conclusions: </strong>We emphasize that measurement of anti-aquaporin 4 antibody is of clinical importance in the differential diagnosis of hypothalamic lesions.</p>","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.300","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30748750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frequency of the D620N mutation in VPS35 in Parkinson disease.","authors":"Kishore R Kumar,&nbsp;Anne Weissbach,&nbsp;Marcus Heldmann,&nbsp;Meike Kasten,&nbsp;Sinem Tunc,&nbsp;Carolyn M Sue,&nbsp;Marina Svetel,&nbsp;Vladimir S Kostić,&nbsp;Juan Segura-Aguilar,&nbsp;Alfredo Ramirez,&nbsp;David K Simon,&nbsp;Peter Vieregge,&nbsp;Thomas F Münte,&nbsp;Johann Hagenah,&nbsp;Christine Klein,&nbsp;Katja Lohmann","doi":"10.1001/archneurol.2011.3367","DOIUrl":"https://doi.org/10.1001/archneurol.2011.3367","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the frequency and clinical spectrum of the recently identified p.D620N mutation in the VPS35 gene in Parkinson disease (PD) in an international sample.</p><p><strong>Design: </strong>Genetic analysis by DNA sequencing and detailed clinical and neuropsychiatric assessment as well as neuroimaging in mutation carriers.</p><p><strong>Setting: </strong>Tertiary referral centers in Germany, Serbia, Chile, and the United States.</p><p><strong>Patients: </strong>One thousand seven hundred seventy-four patients with PD.</p><p><strong>Main outcome measure: </strong>Frequency of the p.D620N mutation.</p><p><strong>Results: </strong>A single mutation carrier was identified. The mutation carrier was a 60-year-old German man who had tremor-dominant PD since the age of 45 years. Longitudinal follow-up over 13 years revealed a disease progression from Hoehn and Yahr stage 1 to 3. There was evidence of mild cognitive impairment on the Montreal Cognitive Assessment. No abnormalities were observed by multimodal neuroimaging. He had a family history consistent with autosomal dominant inheritance. An affected paternal aunt and 3 reportedly unaffected siblings were also found to be mutation carriers.</p><p><strong>Conclusion: </strong>VPS35 mutations are a rare cause of PD in different populations. The clinical phenotype may be indistinguishable from idiopathic PD with the possible exception of an earlier age at onset. Genetic analysis of the extended family revealed incomplete penetrance of the p.D620N mutation.</p>","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2011.3367","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30766806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Potential use of γ-secretase modulators in the treatment of Alzheimer disease.","authors":"Steven L Wagner,&nbsp;Rudolph E Tanzi,&nbsp;William C Mobley,&nbsp;Douglas Galasko","doi":"10.1001/archneurol.2012.540","DOIUrl":"https://doi.org/10.1001/archneurol.2012.540","url":null,"abstract":"<p><p>Although significant progress has occurred in the past 20 years regarding our understanding of Alzheimer disease pathogenesis, we have yet to identify disease-modifying therapeutics capable of substantially altering the clinical course of this prevalent neurodegenerative disease. In this short review, we discuss 2 approaches that are currently being tested clinically (γ-secretase inhibition and γ-secretase modulation) and emphasize the significant differences between these 2 therapeutic approaches. We also discuss certain genetic- and biomarker-based translational and clinical trial paradigms that may assist in developing a useful therapeutic agent.</p>","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.540","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30766898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age, statin use, and the risk for incident Parkinson disease-reply.","authors":"Xiang Gao,&nbsp;Kelly C Simon,&nbsp;Michael A Schwarzschild,&nbsp;Alberto Ascherio","doi":"10.1001/archneurol.2012.2032","DOIUrl":"https://doi.org/10.1001/archneurol.2012.2032","url":null,"abstract":"","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.2032","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31496153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age, statin use, and the risk for incident Parkinson disease.","authors":"Chittaranjan Andrade","doi":"10.1001/archneurol.2012.1132","DOIUrl":"https://doi.org/10.1001/archneurol.2012.1132","url":null,"abstract":"","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.1132","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30960295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebral and cervical venous outflow abnormalities are dynamic.","authors":"Ellen Marder,&nbsp;Pramod Gupta,&nbsp;Michael Ragland,&nbsp;Olaf Stüve","doi":"10.1001/archneurol.2012.1938","DOIUrl":"https://doi.org/10.1001/archneurol.2012.1938","url":null,"abstract":"I t was recently proposed that inflammation associated with multiple sclerosis (MS) is caused by chronic cerebrospinal venous insufficiency (CCSVI) owing to chronically elevated cerebral venous pressure that leads to disruption of the blood-brain barrier and entry of inflammatory mediators into the central nervous system. The results of the original studies that reported CCSVI in 100% of patients with MS (as demonstrated by specific venous ultrasonography abnormalities) have not consistently been replicated using sonography, magnetic resonance venography, or selective venography. Intracranial pressure measurements in patients with MS are no different from control subjects. In a 2011 study of US veterans with MS, we failed to show any association between cerebral venous ultrasonography abnormalities and MS. There was no significant difference between the number of ultrasonography abnormalities found in patients with MS compared with control subjects. In addition, none of the study subjects fulfilled criteria of CCSVI, defined as 2 or more ultrasonography abnormalities by proponents of the controversial CCSVI theory. Overall, currently there appears to be no scientific evidence to support CCSVI as an etiologic factor in MS. Nevertheless, both patients and practitioners continue to promote it and treat it as if it were. One possible reason to explain conflicting results from different research studies is the potentially low reliability and reproducibility of venous ultrasonography assessments owing to the plasticity of these vessels. We hypothesized that repeat studies would show intrapersonal variations with regard to venous diameter and blood flow. Therefore, all 8 study subjects of our original investigation with any abnormal ultrasonography results within the cervical or cerebral veins—including patients with a clinically isolated syndrome, relapsing-remitting MS, secondary progressive MS, or primary progressive MS— and healthy control subjects were reevaluated to determine whether the original findings could be replicated. Both the ultrasonography technician and interpreter were blinded to the subjects’ diagnosis. The ultrasonography technician did not have access to original study results, which were available to the ultrasonography interpreter. All repeat ultrasonography studies were normal (Table). These observations indicate that cerebral and cervical venous abnormalities as detected by ultrasonography may not always be persistent structural abnormalities and may further weaken the association of singular abnormal imaging findings and MS.","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.1938","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30960397","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pathologic accumulation of α-synuclein and Aβ in Parkinson disease patients with dementia.","authors":"Paul T Kotzbauer, Nigel J Cairns, Meghan C Campbell, Allison W Willis, Brad A Racette, Samer D Tabbal, Joel S Perlmutter","doi":"10.1001/archneurol.2012.1608","DOIUrl":"10.1001/archneurol.2012.1608","url":null,"abstract":"<p><strong>Objective: </strong>To determine the relative contributions of individual pathologic protein deposits associated with dementia in patients with Parkinson disease (PD).</p><p><strong>Design: </strong>Autopsied patients were analyzed from February 24, 2005, through July 25, 2010, to determine the distribution and severity of individual pathologic protein deposits (α-synuclein, Aβ, and tau) using routine protocols for histologic and immunohistochemical analysis and established neuropathologic staging criteria. Clinical data were extracted from an electronic medical record system used for all patients with PD.</p><p><strong>Patients: </strong>Thirty-two consecutive autopsied patients treated at the Washington University Movement Disorders Center who had neuropathologic confirmation of PD and a history of dementia, regardless of the timing of the onset of dementia with respect to motor symptoms.</p><p><strong>Results: </strong>Three pathologic subgroups of dementia associated with PD were identified: (1) predominant synucleinopathy (Braak Lewy body stages 5-6) (12 [38%]), (2) predominant synucleinopathy with Aβ deposition (Braak amyloid stages B-C) but minimal or no cortical tau deposition (19 [59%]), and (3) synucleinopathy and Aβ deposition with at least moderate neocortical tauopathy (Braak tau stages 5-6; 1 [3%]). Kaplan-Meier and Cox regression analyses revealed that patients with synucleinopathy plus Aβ deposition had significantly shorter survival (years from PD onset until death and years from dementia onset until death) than patients with synucleinopathy only.</p><p><strong>Conclusions: </strong>Dementia associated with PD has 2 major pathologic subgroups: neocortical synucleinopathy and neocortical synucleinopathy with Aβ deposition. Alzheimer disease with neocortical Aβ and tau deposition does not commonly cause dementia with PD. Furthermore, accumulation of Aβ is associated with lower survival rates in PD patients with dementia. Additional studies are needed to prospectively determine the association between α-synuclein and Aβ accumulation and the role of Aβ in the development and progression of cognitive impairment in PD.</p>","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3616136/pdf/nihms444781.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30783375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasma biomarkers associated with the apolipoprotein E genotype and Alzheimer disease.","authors":"Holly D Soares,&nbsp;William Z Potter,&nbsp;Eve Pickering,&nbsp;Max Kuhn,&nbsp;Frederick W Immermann,&nbsp;David M Shera,&nbsp;Mats Ferm,&nbsp;Robert A Dean,&nbsp;Adam J Simon,&nbsp;Frank Swenson,&nbsp;Judith A Siuciak,&nbsp;June Kaplow,&nbsp;Madhav Thambisetty,&nbsp;Panayiotis Zagouras,&nbsp;Walter J Koroshetz,&nbsp;Hong I Wan,&nbsp;John Q Trojanowski,&nbsp;Leslie M Shaw","doi":"10.1001/archneurol.2012.1070","DOIUrl":"https://doi.org/10.1001/archneurol.2012.1070","url":null,"abstract":"<p><strong>Background: </strong>A blood-based test that could be used as a screen for Alzheimer disease (AD) may enable early intervention and better access to treatment.</p><p><strong>Objective: </strong>To apply a multiplex immunoassay panel to identify plasma biomarkers of AD using plasma samples from the Alzheimer's Disease Neuroimaging Initiative cohort.</p><p><strong>Design: </strong>Cohort study.</p><p><strong>Setting: </strong>The Biomarkers Consortium Alzheimer's Disease Plasma Proteomics Project.</p><p><strong>Participants: </strong>Plasma samples at baseline and at 1 year were analyzed from 396 (345 at 1 year) patients with mild cognitive impairment, 112 (97 at 1 year) patients with AD, and 58 (54 at 1 year) healthy control subjects.</p><p><strong>Main outcome measures: </strong>Multivariate and univariate statistical analyses were used to examine differences across diagnostic groups and relative to the apolipoprotein E (ApoE) genotype.</p><p><strong>Results: </strong>Increased levels of eotaxin 3, pancreatic polypeptide, and N-terminal protein B-type brain natriuretic peptide were observed in patients, confirming similar changes reported in cerebrospinal fluid samples of patients with AD and MCI. Increases in tenascin C levels and decreases in IgM and ApoE levels were also observed. All participants with Apo ε3/ε4 or ε4/ε4 alleles showed a distinct biochemical profile characterized by low C-reactive protein and ApoE levels and by high cortisol, interleukin 13, apolipoprotein B, and gamma interferon levels. The use of plasma biomarkers improved specificity in differentiating patients with AD from controls, and ApoE plasma levels were lowest in patients whose mild cognitive impairment had progressed to dementia.</p><p><strong>Conclusions: </strong>Plasma biomarker results confirm cerebrospinal fluid studies reporting increased levels of pancreatic polypeptide and N-terminal protein B-type brain natriuretic peptide in patients with AD and mild cognitive impairment. Incorporation of plasma biomarkers yielded high sensitivity with improved specificity, supporting their usefulness as a screening tool. The ApoE genotype was associated with a unique biochemical profile irrespective of diagnosis, highlighting the importance of genotype on blood protein profiles.</p>","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.1070","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30766133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The importance of susceptibility-weighted imaging in familial cerebral cavernous malformation.","authors":"Mesut Bulakci,&nbsp;Tuba Kalelioglu,&nbsp;Adem Kiris","doi":"10.1001/archneurol.2012.96","DOIUrl":"https://doi.org/10.1001/archneurol.2012.96","url":null,"abstract":"","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.96","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30783921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}