Archives of neurology最新文献

{"title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay in the time of next-generation sequencing.","authors":"Gabriella Silvestri, Marcella Masciullo, Filippo M Santorelli","doi":"10.1001/2013.jamaneurol.70","DOIUrl":"https://doi.org/10.1001/2013.jamaneurol.70","url":null,"abstract":"","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/2013.jamaneurol.70","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31113491","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":"In memoriam: Joseph Michael Foley, MD (1916-2012).","authors":"Douglas J Lanska","doi":"10.1001/2013.jamaneurol.496","DOIUrl":"https://doi.org/10.1001/2013.jamaneurol.496","url":null,"abstract":"","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/2013.jamaneurol.496","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31113490","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":"Fulminant subacute sclerosing panencephalitis in an individual with a perinatally acquired human immunodeficiency virus infection.","authors":"Ajith Sivadasan,&nbsp;Mathew Alexander,&nbsp;Anil Kumar Patil,&nbsp;Krishnan Balagopal,&nbsp;Zeyaur Rahman Azad","doi":"10.1001/archneurol.2012.486","DOIUrl":"https://doi.org/10.1001/archneurol.2012.486","url":null,"abstract":"<p><p>BACKGROUND Case reports of subacute sclerosing panencephalitis (SSPE) in individuals with human immunodeficiency virus (HIV) infection are scarce, and the natural history is unclear. To our knowledge, a fulminant presentation has not yet been described. OBJECTIVE To describe a case of fulminant SSPE in an individual with a perinatally acquired HIV infection. DESIGN Case report and literature review. SETTING Christian Medical College Hospital, Vellore, India. PATIENT A 17-year-old boy with a perinatally acquired HIV infection. RESULTS The patient presented with subacute-onset cognitive decline and myoclonic jerks with rapid deterioration of health (the patient died within 12 weeks of onset). The findings from magnetic resonance imaging and electroencephalography and the cerebrospinal fluid and serum measles antibody titers were suggestive of SSPE. The fulminant presentation in this case needs to be noted. CONCLUSIONS Along with the better life expectancy of HIV-infected individuals, there may be an increase in the incidence of SSPE in this population. Fulminant SSPE may be added to the spectrum of measles-associated neurological disorders in HIV.</p>","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.486","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30878073","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":"Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs.","authors":"Vera Tadic,&nbsp;Meike Kasten,&nbsp;Norbert Brüggemann,&nbsp;Sophie Stiller,&nbsp;Johann Hagenah,&nbsp;Christine Klein","doi":"10.1001/archneurol.2012.574","DOIUrl":"https://doi.org/10.1001/archneurol.2012.574","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the delay in diagnosis, residual motor signs, and nonmotor signs of dopa-responsive dystonia (DRD) using literature and our own pilot data.</p><p><strong>Design, setting, and patients: </strong>We searched the MEDLINE database for patients with clinically typical DRD and/or guanosine triphosphate cyclohydrolase I gene mutations from 1952 to 2011 and examined a pilot cohort of 23 outpatients with DRD and guanosine triphosphate cyclohydrolase I gene mutations.</p><p><strong>Results: </strong>The literature search yielded 101 reports describing 576 cases. Excluding cases without proven guanosine triphosphate cyclohydrolase I gene mutations as well as homozygous and asymptomatic mutation carriers resulted in 352 cases. The mean (SD) ages at onset were 11.6 (13.4) years (literature) and 9.4 (7.7) years (pilot study). The average (SD) delays in diagnosis were 13.5 (13.3) years (literature) and 15.5 (16.3) years (pilot study); using all literature cases, they were 9.1 (7.5) years before and 15.2 (13.7) years after identification of the guanosine triphosphate cyclohydrolase I gene. Residual motor signs in patients receiving therapy were found in 28% (literature) and 39% (pilot study). Residual motor signs in the literature comprised dystonic (20%) and parkinsonian (11%) symptoms, as well as complications such as contractures or unnecessary surgical procedures. Information on nonmotor signs was given for 70 patients in the literature. Of these, 34% had depression, 19% anxiety, and 9% obsessive-compulsive disorder. Six of our own cases (32%) reported 1 or more nonmotor signs including depression and migraine.</p><p><strong>Conclusions: </strong>The delay in diagnosis is long, despite the well-known etiology and availability of genetic testing and specific therapy. A sizable number of treated patients have residual motor signs, nonmotor signs, and complications resulting from the lack of timely therapy or unnecessary procedures.</p>","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.574","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30913821","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":"Regional white matter hyperintensity volume, not hippocampal atrophy, predicts incident Alzheimer disease in the community.","authors":"Adam M Brickman, Frank A Provenzano, Jordan Muraskin, Jennifer J Manly, Sonja Blum, Zoltan Apa, Yaakov Stern, Truman R Brown, José A Luchsinger, Richard Mayeux","doi":"10.1001/archneurol.2012.1527","DOIUrl":"10.1001/archneurol.2012.1527","url":null,"abstract":"<p><p>BACKGROUND New-onset Alzheimer disease (AD) is often attributed to degenerative changes in the hippocampus. However, the contribution of regionally distributed small vessel cerebrovascular disease, visualized as white matter hyperintensities (WMHs) on magnetic resonance imaging, remains unclear. OBJECTIVE To determine whether regional WMHs and hippocampal volume predict incident AD in an epidemiological study. DESIGN A longitudinal community-based epidemiological study of older adults from northern Manhattan, New York. SETTING The Washington Heights/Inwood Columbia Aging Project. PARTICIPANTS Between 2005 and 2007, 717 participants without dementia received magnetic resonance imaging scans. A mean (SD) of 40.28 (9.77) months later, 503 returned for follow-up clinical examination and 46 met criteria for incident dementia (45 with AD). Regional WMHs and relative hippocampal volumes were derived. Three Cox proportional hazards models were run to predict incident dementia, controlling for relevant variables. The first included all WMH measurements; the second included relative hippocampal volume; and the third combined the 2 measurements. MAIN OUTCOME MEASURE Incident AD. RESULTS White matter hyperintensity volume in the parietal lobe predicted time to incident dementia (hazard ratio [HR] = 1.194; P = .03). Relative hippocampal volume did not predict incident dementia when considered alone (HR = 0.419; P = .77) or with the WMH measures included in the model (HR = 0.302; P = .70). Including hippocampal volume in the model did not notably alter the predictive utility of parietal lobe WMHs (HR = 1.197; P = .049). CONCLUSIONS The findings highlight the regional specificity of the association of WMHs with AD. It is not clear whether parietal WMHs solely represent a marker for cerebrovascular burden or point to distinct injury compared with other regions. Future work should elucidate pathogenic mechanisms linking WMHs and AD pathology.</p>","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597387/pdf/nihms448014.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30878616","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 evolution of neurology.","authors":"Michael P McQuillen","doi":"10.1001/archneurol.2012.1257","DOIUrl":"https://doi.org/10.1001/archneurol.2012.1257","url":null,"abstract":"PROG2S2 UROGRESS in neurology lagged behind other branches of medicine because of the slowness of the development of knowledge regarding the form and function of the nerLJ|vous system. The brain and spinal cord, covered wvith a ! hard, bony shell, are particularly inaccessible to direct examination. The type and nature of disease of these structures could only be inferred from a study of the disorders of function which occurred when they were damaged, until more accurate methods of visualization of details of their intimate structures w;ere discovered. WShen the techniques of auscultation and percussion were introduced into medicine, these methods were applied to the study of the nervous system.They were rapidly discarded as useless. It is interesting to quote from an article written by James Hope in I840: \"The diseases of the brain are, at the present moment, more obscure than any great class in the nosology. Twenty years ago, the same was said, and with truth, of the diseases of the lungs and heart; but the elucidation and corroboration of the general symptoms by the physical signs derived from auscultation, percussion, etc., have reversed the proposition and not only redeemed these diseases from their obscurity, but actually rendered their diagnosis more precise and certain than that of any other important class. There are no physical signs applicable to the brain; and, from the circumstances in which the organ is placed, it is to be feared that none will ever be discovered.\" This pessimism can be understood when one realizes that at this time, the tendon reflexes, plantar responses, and the now well-known signs of dysfunction of the cerebellum, or basal ganglia, had not yet been described. An adequate examination of the nervous system was not possible","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.1257","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31020794","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":"Status epilepticus amauroticus revisited: ictal and peri-ictal homonymous hemianopsia.","authors":"Susan Shaw,&nbsp;Paul Kim,&nbsp;David Millett","doi":"10.1001/archneurol.2012.317","DOIUrl":"https://doi.org/10.1001/archneurol.2012.317","url":null,"abstract":"<p><strong>Objective: </strong>To describe the clinical, electrographic, and radiographic features of status epilepticus amauroticus, or homonymous hemianopsia associated with partial status epilepticus, in 3 patients w:h subsequent resolution of radiographic abnormalities and visual deficits.</p><p><strong>Design: </strong>Case series.</p><p><strong>Setting: </strong>Rancho Los Amigos National Rehabilitation Center in Downey, California, and the Los Angeles County + University of Southern California Medical Center.</p><p><strong>Patients: </strong>One patient with a single remote seizure and 2 patients with symptomatic partial epilepsy all presented with homonymous hemianopsia.</p><p><strong>Intervention: </strong>Continuous electroencephalographic monitoring, magnetic resonance imaging, and antiepileptic medical therapy for status epilepticus.</p><p><strong>Main outcome measures: </strong>Neurologic examination, electroencephalography, and magnetic resonance imaging.</p><p><strong>Results: </strong>The association of homonymous hemianopsia and restricted diffusion on magnetic resonance imaging led to an initial diagnosis of ischemic infarction in 2 cases despite atypical diffusion-weighted imaging patterns. However, continuous electroencephalogram demonstrated focal epileptiform discharges in 2 cases and repetitive focal seizures in another, suggesting a diagnosis of status epilepticus amauroticus. Homonymous hemianopsia resolved in all 3 patients after escalation of the dosage of anticonvulsant therapy. Follow-up magnetic resonance imaging and electroencephalogram demonstrated complete or near-complete resolution of associated abnormalities.</p><p><strong>Conclusions: </strong>Status epilepticus amauroticus is an uncommon but important cause of homonymous hemianopsia, and it should be considered in any patient with a history of seizures, fluctuating visual symptoms, or atypical patterns of restricted diffusion involving the occipital cortex. Continuous electroencephalographic monitoring is an important diagnostic tool for the diagnosis of status epilepticus amauroticus, which may have a favorable prognosis when treated with aggressive anticonvulsant therapy.</p>","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.317","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30849345","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":"Plasma Anti-Amyloid-β Autoantibodies in All Alzheimer Disease Types-Reply.","authors":"Guillaume Dorothée,&nbsp;Leonardo Cruz de Souza,&nbsp;Marie Sarazin,&nbsp;Pierre Aucouturier","doi":"10.1001/archneurol.2012.2779","DOIUrl":"https://doi.org/10.1001/archneurol.2012.2779","url":null,"abstract":"","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.2779","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31588880","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":"Fractional anisotropy in the posterior limb of the internal capsule and prognosis in amyotrophic lateral sclerosis.","authors":"Ricarda A L Menke,&nbsp;Ivy Abraham,&nbsp;Catherine S Thiel,&nbsp;Nicola Filippini,&nbsp;Steve Knight,&nbsp;Kevin Talbot,&nbsp;Martin R Turner","doi":"10.1001/archneurol.2012.1122","DOIUrl":"https://doi.org/10.1001/archneurol.2012.1122","url":null,"abstract":"<p><strong>Objective: </strong>To explore the value of diffusion tensor imaging applied to those specific cerebral white matter tracts consistently involved pathologically in amyotrophic lateral sclerosis as a source of prognostic biomarkers.</p><p><strong>Design: </strong>Baseline clinical assessment and 3-T diffusion tensor imaging, repeated after approximately 6 months.Tract-based spatial statistics were used to assess voxel wise correlations of just the baseline diffusion tensor imaging indices with the progression rate (change in disability score/time interval) within the corticospinal tract and corpus callosum.</p><p><strong>Patients: </strong>The study involved 21 patients with amyotrophic lateral sclerosis and 3 patients with primary lateral sclerosis.</p><p><strong>Results: </strong>Correlation was observed between fractional anisotropy and progression rate for a region of the corticospinal tract spanning the posterior limb of the internal capsule, with a left hemisphere emphasis. Posterior limb of the internal capsule fractional anisotropy showed potential to distinguish those patients with rapid progression. Axial diffusivity significantly increased in this region in a paired t test analysis of baseline and follow-up diffusion tensor imaging, in keeping with axonal damage.No correlations were noted for the corpus callosum.</p><p><strong>Conclusions: </strong>Posterior limb of the internal capsule fractional anisotropy is a candidate prognostic marker in amyotrophic lateral sclerosis, with potential to identify incident cases with more rapid progression.</p>","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.1122","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30849414","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":"Schwannoma of the palmar cutaneous nerve: electrodiagnosis with radiologic and pathologic correlations.","authors":"Anastacia Zekeridou,&nbsp;Francois Ochsner,&nbsp;Friedrich Medlin,&nbsp;Johannes A Lobrinus,&nbsp;Fabio Becce,&nbsp;Thierry Kuntzer","doi":"10.1001/archneurol.2012.168","DOIUrl":"https://doi.org/10.1001/archneurol.2012.168","url":null,"abstract":"","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.168","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30833540","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}