abstract：IMPORTANCE:Progressive external ophthalmoplegia (PEO) is a common feature in adults with mitochondrial (mt) DNA maintenance disorders associated with somatic mtDNA deletions in muscle, yet the causal genetic defect in many patients remains undetermined. OBSERVATIONS:Whole-exome sequencing identified a novel, heterozyg...

journal_title：JAMA neurology

authors： Gorman GS,Pfeffer G,Griffin H,Blakely EL,Kurzawa-Akanbi M,Gabriel J,Sitarz K,Roberts M,Schoser B,Pyle A,Schaefer AM,McFarland R,Turnbull DM,Horvath R,Chinnery PF,Taylor RW

更新日期：2015-01-01 00:00:00

abstract：IMPORTANCE:Symptoms in the genital region, such as pain, discomfort, tingling, and burning sensations, have rarely been reported in Parkinson disease (PD), and the previous cases were attributed to nonmotor off symptoms. We report a patient with PD and severe genital discomfort unrelated to motor fluctuations but compa...

journal_title：JAMA neurology

authors： Aquino CC,Mestre T,Lang AE

更新日期：2014-12-01 00:00:00

abstract：IMPORTANCE:Glioblastoma is the most common primary malignant brain tumor, but despite multimodal treatment with surgery, radiotherapy, and temozolomide chemotherapy, the prognosis is poor, with a median survival of 16 to 19 months and poor quality of life throughout the disease course. New treatments are needed. EVIDE...

journal_title：JAMA neurology

authors： Thomas AA,Brennan CW,DeAngelis LM,Omuro AM

更新日期：2014-11-01 00:00:00

abstract：IMPORTANCE:Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune inflammatory disorder of the central nervous system. Recently, various immunosuppressant medications were introduced as therapeutic options for preventing relapse of NMOSD. However, our understanding of the effectiveness of mycophenolate mofetil...

journal_title：JAMA neurology

authors： Huh SY,Kim SH,Hyun JW,Joung AR,Park MS,Kim BJ,Kim HJ

更新日期：2014-11-01 00:00:00

abstract：IMPORTANCE:Voltage-gated potassium channel complex antibody (VGKCc-Ab) encephalitis is an immunotherapy-responsive syndrome usually associated with causative antibodies that target the leucine-rich, glioma inactivated 1 (LGI1) protein. Although it is expressed throughout the brain, LGI1 is not known to be expressed in ...

journal_title：JAMA neurology

authors： Naasan G,Irani SR,Bettcher BM,Geschwind MD,Gelfand JM

更新日期：2014-10-01 00:00:00

abstract：IMPORTANCE:Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease) has also been described in women presenting with a late-onset isolated parkinsonian syndrome. Interestingly, unlike in other populations, there is a slight female predominance in the prevalence of parkinsonism in the Philippines. ...

journal_title：JAMA neurology

authors： Domingo A,Lee LV,Brüggemann N,Freimann K,Kaiser FJ,Jamora RD,Rosales RL,Klein C,Westenberger A

更新日期：2014-09-01 00:00:00

abstract：IMPORTANCE:Documentation of muscle pathology compatible with targeting of sarcolemmal aquaporin-4 (AQP4) by complement-activating IgG implies involvement of organs beyond the central nervous system in neuromyelitis optica spectrum disorders. OBSERVATIONS:We report on a 51-year-old woman who had relapsing optic neuriti...

journal_title：JAMA neurology

authors： Guo Y,Lennon VA,Popescu BF,Grouse CK,Topel J,Milone M,Lassmann H,Parisi JE,Pittock SJ,Stefoski D,Balabanov R,Lucchinetti CF

更新日期：2014-08-01 00:00:00

abstract：IMPORTANCE:Blast injury has been identified as the signature injury in the conflicts in Iraq and Afghanistan. However it remains to be determined whether fundamental differences may exist between blast-related traumatic brain injury (TBI) and TBI due to other mechanisms. OBJECTIVES:To determine similarities and differ...

journal_title：JAMA neurology

authors： Mac Donald CL,Johnson AM,Wierzechowski L,Kassner E,Stewart T,Nelson EC,Werner NJ,Zonies D,Oh J,Fang R,Brody DL

更新日期：2014-08-01 00:00:00

abstract：IMPORTANCE:Cerebrospinal fluid (CSF) is the compartment in closest proximity to the central nervous system (CNS) parenchyma and might reflect immune pathology in inflammatory CNS disorders like multiple sclerosis (MS). Multiparameter flow cytometry is used to characterize immunological alterations in the CSF of patient...

journal_title：JAMA neurology

authors： Alvermann S,Hennig C,Stüve O,Wiendl H,Stangel M

更新日期：2014-07-01 00:00:00

abstract：IMPORTANCE:Here we report a family with coexistence of multiple system atrophy (MSA) and amyotrophic lateral sclerosis (ALS) with hexanucleotide repeat expansions in C9orf72. OBSERVATIONS:A 65-year-old woman had a 2-year history of ataxia with autonomic dysfunction but without motor neuron signs. She was diagnosed as ...

journal_title：JAMA neurology

authors： Goldman JS,Quinzii C,Dunning-Broadbent J,Waters C,Mitsumoto H,Brannagan TH 3rd,Cosentino S,Huey ED,Nagy P,Kuo SH

更新日期：2014-06-01 00:00:00

abstract：IMPORTANCE:Markedly enlarged Virchow-Robin spaces throughout the striatum appear occasionally on magnetic resonance imaging (MRI) scans of the elderly, and this type of striatum is known as the Swiss cheese striatum (SCS); however, its clinical impact is unknown. OBJECTIVE:To determine the clinical features associated...

journal_title：JAMA neurology

authors： Burnett MS,Witte RJ,Ahlskog JE

更新日期：2014-06-01 00:00:00

abstract：IMPORTANCE:Alzheimer disease (AD) is a neurodegenerative disorder with no effective therapies. In 1984, the National Institute on Aging created the first 5 AD centers (ADCs) in an effort to coordinate research efforts into the pathology and treatment of the disease. Since that time, the ADC program has expanded to incl...

journal_title：JAMA neurology

authors： Hughes ME,Peeler J,Hogenesch JB,Trojanowski JQ

更新日期：2014-04-01 00:00:00

abstract：IMPORTANCE:Progressive multifocal leukoencephalopathy results from lytic infection of the glia by the JC polyomavirus (JCV); JCV granule cell neuronopathy is caused by infection with a mutated form of JCV, leading to a shift in viral tropism from the glia to cerebellar granule cells. This shift results in a clinical sy...

journal_title：JAMA neurology

authors： Dang L,Dang X,Koralnik IJ,Todd PK

更新日期：2014-04-01 00:00:00

abstract：IMPORTANCE:While advances have been made in characterizing the C9ORF72 clinical phenotype, the hallmark features that discriminate between carriers and noncarriers remain unclear. OBJECTIVES:To determine the frequency of the C9ORF72 mutation in a frontotemporal dementia (FTD) cohort and to define the clinical, neurops...

journal_title：JAMA neurology

authors： Devenney E,Hornberger M,Irish M,Mioshi E,Burrell J,Tan R,Kiernan MC,Hodges JR

更新日期：2014-03-01 00:00:00

abstract：IMPORTANCE:Many clinical trials focus on restricting hematoma expansion following acute intracerebral hemorrhage (ICH), but selecting those patients at highest risk of hematoma expansion is challenging. OBJECTIVE:To develop a prediction score for hematoma expansion in patients with primary ICH. DESIGN, SETTING, AND P...

journal_title：JAMA neurology

authors： Brouwers HB,Chang Y,Falcone GJ,Cai X,Ayres AM,Battey TW,Vashkevich A,McNamara KA,Valant V,Schwab K,Orzell SC,Bresette LM,Feske SK,Rost NS,Romero JM,Viswanathan A,Chou SH,Greenberg SM,Rosand J,Goldstein JN

更新日期：2014-02-01 00:00:00

abstract：IMPORTANCE:Limbic encephalitis that is associated with anti-voltage-gated potassium channel complex (VGKCC) antibodies (VGKCC syndrome) is an autoimmune, usually nonparaneoplastic form of encephalitis that is responsive to immunotherapy. Differentiating this treatable disease from others that have a similar presentatio...

journal_title：JAMA neurology

authors： Yoo JY,Hirsch LJ

更新日期：2014-01-01 00:00:00

abstract：IMPORTANCE:Aquaporin 4 antibody (AQP4-Ab)-negative patients with longitudinally extensive transverse myelitis (LETM) behave differently from those with AQP4-Ab. Aquaporin 4 antibody-negative neuromyelitis optica (NMO) is rare when good assays are used. OBJECTIVE:To assess if AQP4-Ab-negative patients with LETM share s...

journal_title：JAMA neurology

authors： Kitley J,Leite MI,Küker W,Quaghebeur G,George J,Waters P,Woodhall M,Vincent A,Palace J

更新日期：2013-11-01 00:00:00

abstract：IMPORTANCE:Magnetic resonance imaging markers of incipient cognitive decline among healthy elderly individuals have become important for both clarifying the biological underpinnings of dementia and clinically identifying healthy individuals at high risk of cognitive decline. Even though the role of hippocampal atrophy ...

journal_title：JAMA neurology

authors： Fletcher E,Raman M,Huebner P,Liu A,Mungas D,Carmichael O,DeCarli C

更新日期：2013-11-01 00:00:00

abstract：IMPORTANCE:We encountered 2 patients with amyotrophic lateral sclerosis (ALS) with tongue enlargement and protrusion outside the oral cavity (macroglossia). To our knowledge, the relationship between macroglossia and ALS has not been reported in the literature. The objective of this article was to describe the clinical...

journal_title：JAMA neurology

authors： McKee HR,Escott E,Damm D,Kasarskis E

更新日期：2013-11-01 00:00:00

abstract：IMPORTANCE:Mutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD), suggesting a role for SQSTM1 in FTD. OBJECTIVE:To...

journal_title：JAMA neurology

authors： Le Ber I,Camuzat A,Guerreiro R,Bouya-Ahmed K,Bras J,Nicolas G,Gabelle A,Didic M,De Septenville A,Millecamps S,Lenglet T,Latouche M,Kabashi E,Campion D,Hannequin D,Hardy J,Brice A,French Clinical and Genetic Research Net

更新日期：2013-11-01 00:00:00

abstract：:IMPORTANCE The search for novel Alzheimer disease (AD) genes or pathologic mutations within known AD loci is ongoing. The development of array technologies has helped to identify rare recessive mutations among long runs of homozygosity (ROHs), in which both parental alleles are identical. Caribbean Hispanics are known...

journal_title：JAMA neurology

authors： Ghani M,Sato C,Lee JH,Reitz C,Moreno D,Mayeux R,St George-Hyslop P,Rogaeva E

更新日期：2013-10-01 00:00:00

abstract：IMPORTANCE:Fungal meningitis due to injections of contaminated methylprednisolone acetate can present with vascular sequelae in immunocompetent individuals. This is particularly germane to neurologists because better recognition of the clinical characteristics of patients with fungal meningitis and ischemic stroke will...

journal_title：JAMA neurology

authors： Kleinfeld K,Jones P,Riebau D,Beck A,Paueksakon P,Abel T,Claassen DO

更新日期：2013-09-01 00:00:00

abstract：IMPORTANCE:Hematoma volume is the strongest predictor of outcome in intracerebral hemorrhage (ICH). Despite known differences in the underlying biology between deep and lobar ICHs, limited data are available on location specificity of factors reported to affect hematoma volume. OBJECTIVE:To evaluate whether determinan...

journal_title：JAMA neurology

authors： Falcone GJ,Biffi A,Brouwers HB,Anderson CD,Battey TW,Ayres AM,Vashkevich A,Schwab K,Rost NS,Goldstein JN,Viswanathan A,Greenberg SM,Rosand J

更新日期：2013-08-01 00:00:00

abstract：IMPORTANCE:Studies have shown that both high and low blood pressure (BP) may play a role in the etiology of brain atrophy. High BP in midlife has been associated with more brain atrophy later in life, whereas studies in older populations have shown a relation between low BP and more brain atrophy. Yet, prospective evid...

journal_title：JAMA neurology

authors： Jochemsen HM,Muller M,Visseren FL,Scheltens P,Vincken KL,Mali WP,van der Graaf Y,Geerlings MI,SMART Study Group.

更新日期：2013-08-01 00:00:00

abstract：IMPORTANCE:The literature on cingulate gyrus epilepsy in the magnetic resonance imaging era is limited to case reports and small case series. To our knowledge, this is the largest study of surgically confirmed epilepsy arising from the anterior or posterior cingulate region. OBJECTIVE:To characterize the clinical and ...

journal_title：JAMA neurology

authors： Alkawadri R,So NK,Van Ness PC,Alexopoulos AV

更新日期：2013-08-01 00:00:00

abstract：IMPORTANCE:The clinical role of amyloid brain positron emission tomographic imaging in the diagnosis of Alzheimer disease is currently being formulated. The specificity of a positive amyloid scan is a matter of contention. OBSERVATIONS:An 83-year-old Canadian man presented with a 5-year history of predominantly short-...

journal_title：JAMA neurology

authors： Ducharme S,Guiot MC,Nikelski J,Chertkow H

更新日期：2013-07-01 00:00:00

abstract：IMPORTANCE:The frequency and distribution of synucleinopathies and tauopathies manifesting with parkinsonism in the general population are poorly understood, thus affecting health care planning and research. OBJECTIVE:To investigate the incidence and distribution of specific types of parkinsonism and related proteinop...

journal_title：JAMA neurology

authors： Savica R,Grossardt BR,Bower JH,Ahlskog JE,Rocca WA

更新日期：2013-07-01 00:00:00

abstract：:We are at an inflection point in our study of the human genome as it relates to neurodegenerative disease. The sequencing of the human genome, and its associated cataloging of human genetic variation and technological as well as methodological development, introduced a period of rapid gene discovery over the past deca...

journal_title：JAMA neurology

authors： De Jager PL,Bennett DA

更新日期：2013-06-01 00:00:00

abstract：IMPORTANCE:Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are scarce. OBJECTIVE:To present the prevalence and distribution of HCA and HSP in Portugal. DESIGN AND SETTING:Population-based, nationwide, systematic survey, from January 1, 1994, through April 15, 2004, i...

journal_title：JAMA neurology

authors： Coutinho P,Ruano L,Loureiro JL,Cruz VT,Barros J,Tuna A,Barbot C,Guimarães J,Alonso I,Silveira I,Sequeiros J,Marques Neves J,Serrano P,Silva MC

更新日期：2013-06-01 00:00:00

abstract：IMPORTANCE:To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar ataxia (SCA). OBJECTIVE:To clinically and genetically characterize a Spanish kindred with pure SCA presenting with altered vertical eye movements. DESIGN...

journal_title：JAMA neurology

authors： Serrano-Munuera C,Corral-Juan M,Stevanin G,San Nicolás H,Roig C,Corral J,Campos B,de Jorge L,Morcillo-Suárez C,Navarro A,Forlani S,Durr A,Kulisevsky J,Brice A,Sánchez I,Volpini V,Matilla-Dueñas A

更新日期：2013-06-01 00:00:00

abstract：IMPORTANCE:Growing evidence of cell-to-cell transmission of neurodegenerative disease (ND)-associated proteins (NDAPs) (ie, tau, Aβ, and α-synuclein) suggests possible similarities to the infectious prion protein (PrPsc) in spongiform encephalopathies. There are limited data on the potential human-to-human transmission...

journal_title：JAMA neurology

authors： Irwin DJ,Abrams JY,Schonberger LB,Leschek EW,Mills JL,Lee VM,Trojanowski JQ

更新日期：2013-04-01 00:00:00

abstract：IMPORTANCE:β-Amyloid (Aβ) deposition and vascular brain injury (VBI) frequently co-occur and are both associated with cognitive decline in aging. Determining whether a direct relationship exists between them has been challenging. We sought to understand VBI's influence on cognition and clinical impairment, separate fro...

journal_title：JAMA neurology

authors： Marchant NL,Reed BR,Sanossian N,Madison CM,Kriger S,Dhada R,Mack WJ,DeCarli C,Weiner MW,Mungas DM,Chui HC,Jagust WJ

更新日期：2013-04-01 00:00:00

abstract：IMPORTANCE:Given the high frequency of failure of first-line therapies, there is an urgent need for second-line treatment strategies for pediatric patients with multiple sclerosis (MS). OBJECTIVE:To report the use of natalizumab in pediatric MS. Natalizumab, a humanized monoclonal antibody targeting α4 integrin, is ef...

journal_title：JAMA neurology

authors： Kornek B,Aboul-Enein F,Rostasy K,Milos RI,Steiner I,Penzien J,Hellwig K,Pitarokoili K,Storm van's Gravesande K,Karenfort M,Blaschek A,Meyer A,Seidl R,Debelic D,Vass K,Prayer D,Kristoferitsch W,Bayas A

更新日期：2013-04-01 00:00:00

abstract：OBJECTIVE:To assess the reliability of new magnetic resonance imaging (MRI) lesion counts by clinicians in a multiple sclerosis specialty clinic. DESIGN:An observational study. SETTING:A multiple sclerosis specialty clinic. PATIENTS:Eighty-five patients with multiple sclerosis participating in a National Institutes ...

journal_title：JAMA neurology

authors： Erbayat Altay E,Fisher E,Jones SE,Hara-Cleaver C,Lee JC,Rudick RA

更新日期：2013-03-01 00:00:00

abstract：BACKGROUND:Therapies designed to decrease the level of SOD1 are currently in a clinical trial for patients with superoxide dismutase (SOD1)-linked familial amyotrophic lateral sclerosis (ALS). OBJECTIVE:To determine whether the SOD1 protein in cerebral spinal fluid (CSF) may be a pharmacodynamic marker for antisense o...

journal_title：JAMA neurology

authors： Winer L,Srinivasan D,Chun S,Lacomis D,Jaffa M,Fagan A,Holtzman DM,Wancewicz E,Bennett CF,Bowser R,Cudkowicz M,Miller TM

更新日期：2013-02-01 00:00:00

abstract：OBJECTIVE:To determine, in patients identified as seropositive for neuronal voltage-gated potassium channel (VGKC) complex autoantibodies, the spectrum of clinical presentations and frequency of leucine-rich glioma-inactivated protein 1 (LGI1) and contactin-associated protein-like 2 (CASPR2) as defined antigenic neuron...

journal_title：JAMA neurology

authors： Klein CJ,Lennon VA,Aston PA,McKeon A,O'Toole O,Quek A,Pittock SJ

更新日期：2013-02-01 00:00:00

abstract：BACKGROUND:Approximately 10% to 14% of ischemic strokes occur in young adults. OBJECTIVE:To investigate the yield of diagnostic tests, neuroimaging findings, and treatment of ischemic strokes in young adults. DESIGN:We retrospectively reviewed data from our Get with the Guidelines-Stroke database from 2005 through 20...

journal_title：JAMA neurology

authors： Ji R,Schwamm LH,Pervez MA,Singhal AB

更新日期：2013-01-01 00:00:00