Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion.

abstract：:This is a case study of a patient with the clinical diagnosis of meningoencephalitis. It demonstrates the in vivo development of plasma cells in the central nervous system. All the stages of in vitro mitogen-induced lymphocyte transformation previously described by light and electron microscopy are recapitulated in th...

journal_title：Neurology

authors： Glasser L,Payne C,Corrigan JJ Jr

更新日期：1977-05-01 00:00:00

abstract：:Ten patients with amyotrophic lateral sclerosis were given intrathecal injections of natural interferon alpha, 1 million units weekly for 7 to 24 weeks. Six patients completed the trial. Four voluntarily withdrew after 7 to 13 injections. The slopes of deterioration for 40 quantitative tests of neuromuscular function ...

journal_title：Neurology

authors： Mora JS,Munsat TL,Kao KP,Finison LJ,Hedlund W,Bradley GA,Scheife R,Georgiades JA

更新日期：1986-08-01 00:00:00

abstract：:We assessed the ability to recognize epileptiform abnormalities on a video review of ambulatory cassette EEGs (A/EEG) by comparing two independent interpretations of an A/EEG to those derived from a routine recording and intensive monitoring by cable telemetry (C/EEG) of the same 40 patients. Both A/EEG readings concu...

journal_title：Neurology

authors： Ebersole JS,Leroy RF

更新日期：1983-07-01 00:00:00

abstract：:Our understanding of the pathogenesis of Alzheimer's disease (AD) had advanced rapidly, particularly in the area of genetics. Clinical trials of agents that offer the promise of going beyond symptomatic treatment to actually slowing the progression of disease, perhaps by enhancing the viability of neurons, are under w...

journal_title：Neurology

authors： Whitehouse PJ

更新日期：1997-05-01 00:00:00

abstract：OBJECTIVE:To assess the attitudes, knowledge, and practice patterns of US neurologists regarding migraine management relative to the US Headache Consortium Guidelines (the Guidelines). METHODS:Two samples of 600 neurologists each were selected from the American Academy of Neurology membership database. The first group...

journal_title：Neurology

authors： Lipton RB,Bigal ME,Rush SR,Yenkosky JP,Liberman JN,Bartleson JD,Silberstein SD

更新日期：2004-06-08 00:00:00

abstract：OBJECTIVE:To describe the clinical features and outcome of anti-NMDA receptor (NMDAR) encephalitis in patients ≥45 years old. METHOD:Observational cohort study. RESULTS:In a cohort of 661 patients with anti-NMDAR encephalitis, we identified 31 patients ≥45 years old. Compared with younger adults (18-44 years), older ...

journal_title：Neurology

authors： Titulaer MJ,McCracken L,Gabilondo I,Iizuka T,Kawachi I,Bataller L,Torrents A,Rosenfeld MR,Balice-Gordon R,Graus F,Dalmau J

更新日期：2013-09-17 00:00:00

abstract：BACKGROUND:Alexander disease is most commonly associated with macrocephaly and, on MRI, a leukoencephalopathy with frontal preponderance. The disease is caused by mutation of the GFAP gene. Clinical and MRI phenotypic variation have been increasingly recognized. METHODS:The authors studied seven patients with Alexande...

journal_title：Neurology

authors： van der Knaap MS,Ramesh V,Schiffmann R,Blaser S,Kyllerman M,Gholkar A,Ellison DW,van der Voorn JP,van Dooren SJ,Jakobs C,Barkhof F,Salomons GS

更新日期：2006-02-28 00:00:00

abstract：:Among 22 patients with human T-lymphotropic virus type I (HTLV-I)-associated chronic progressive myelopathy, agarose isoelectric focusing (AIF) revealed oligoclonal IgG bands in 21: in 3 in CSF only; in 11 in CSF and to some extent in serum; and in 7, identical patterns in CSF and serum. By immunoblot after AIF of CSF...

journal_title：Neurology

authors： Link H,Cruz M,Gessain A,Gout O,de Thé G,Kam-Hansen S

更新日期：1989-12-01 00:00:00

abstract：OBJECTIVE:To investigate residual function of the motor cortex corresponding to the hand of the amputated arm (MCamp). METHODS:Focal transcranial magnetic stimulation (TMS) of MCamp was performed in 10 patients 22 to 52 years after arm amputation to inhibit tonic muscle contraction in the intact hand ipsilateral to co...

journal_title：Neurology

authors： Röricht S,Meyer BU

更新日期：2000-02-22 00:00:00

abstract：:Isovaleric acidemia (IVA) is an inborn error of leucine metabolism, resulting in an accumulation of isovaleric acid in the body fluids. The neuropathologic findings in an 11-day-old infant with IVA consisted of diffuse cerebral edema, massive cerebellar hemorrhage, upward transtentorial herniation, and focal degenerat...

journal_title：Neurology

authors： Fischer AQ,Challa VR,Burton BK,McLean WT

更新日期：1981-06-01 00:00:00

abstract：OBJECTIVES:More than 30 different rare mutations, including copy number variants (CNVs), in the amyloid precursor protein gene (APP) cause early-onset familial Alzheimer disease (EOFAD), whereas the contribution of common APP variants to disease risk remains controversial. In this study we systematically assessed the r...

journal_title：Neurology

authors： Hooli BV,Mohapatra G,Mattheisen M,Parrado AR,Roehr JT,Shen Y,Gusella JF,Moir R,Saunders AJ,Lange C,Tanzi RE,Bertram L

更新日期：2012-04-17 00:00:00

abstract：:Thirty-eight survivors from among 117 patients hospitalized after out-of-hospital cardiac arrest were evaluated approximately 3 1/2 years later. Twenty patients were living; 18 had died. Fifty-three percent had resumed independent social activities, but only 32% had returned to work. Eight of 14 patients tested were n...

journal_title：Neurology

authors： Earnest MP,Yarnell PR,Merrill SL,Knapp GL

更新日期：1980-12-01 00:00:00

abstract：:A 32-year-old patient with seizures experienced decreased right-ear hearing during electrocortical stimulation mapping of the left lateral superior temporal gyrus. Audiometric testing under headphones confirmed a reversible, moderate unilateral hearing loss. Under binaural listening conditions, auditory comprehension ...

journal_title：Neurology

authors： Sinha SR,Crone NE,Fotta R,Lenz F,Boatman DF

更新日期：2005-01-25 00:00:00

abstract：:A moderately retarded Japanese boy, with a normal male karyotype (46,XY), was diagnosed to have a subcortical band heterotopia or double cortex syndrome. The band heterotopia was relatively thick compared with that of other patients reported. On T2-weighted coronal MR sections, there were numerous radial linear struct...

journal_title：Neurology

authors： Ono J,Mano T,Andermann E,Harada K,Sakurai K,Ikeda T,Yoshihara N,Shimizu K,Okada S,Andermann F

更新日期：1997-06-01 00:00:00

abstract：BACKGROUND:Deep brain stimulation of the internal global pallidus (GPi) and the subthalamic nucleus (STN) has become a treatment alternative in advanced PD. Although the effects of GPi stimulation have been examined recently, little is known about STN stimulation effects on motor cortex excitability. METHODS:The effec...

journal_title：Neurology

authors： Däuper J,Peschel T,Schrader C,Kohlmetz C,Joppich G,Nager W,Dengler R,Rollnik JD

更新日期：2002-09-10 00:00:00

abstract：:In 10 patients with myasthenia gravis, we studied the relationship between plasma pyridostigmine levels and five measures of neuromuscular function (NMF) following single oral doses of 60 to 120 mg. The NMF measures were percent decrement of the evoked muscle compound potential, maximum force, force-time integral, vit...

journal_title：Neurology

authors： Milner-Brown HS,Mellenthin M,Sharma ML,Miller RG

更新日期：1987-05-01 00:00:00

abstract：:To define the natural history of asymptomatic meningioma found incidentally on a neuroimaging study, we performed a retrospective analysis of 35 such patients. There were 32 women and three men, with a mean age of 67 years and a mean follow-up of 74 months. Four tumors had progressed on subsequent imaging, and one pat...

journal_title：Neurology

authors： Go RS,Taylor BV,Kimmel DW

更新日期：1998-12-01 00:00:00

abstract：:The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. Patient 1 came from Italy and presented with typical ataxia with ocular motor apraxia (OMA). She was homozygous for the W279X nonsense mutation, which is associated with the Portuguese foundi...

journal_title：Neurology

authors： Tranchant C,Fleury M,Moreira MC,Koenig M,Warter JM

更新日期：2003-03-11 00:00:00

abstract：OBJECTIVE:To determine the efficacy and tolerability of unilateral thalamic deep brain stimulation (DBS) for patients with medically refractory essential tremor (ET) and the tremor associated with Parkinson's disease (PD). BACKGROUND:The tremor of ET and PD may produce functional disability despite optimal medical the...

journal_title：Neurology

authors： Ondo W,Jankovic J,Schwartz K,Almaguer M,Simpson RK

更新日期：1998-10-01 00:00:00

abstract：BACKGROUND:Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder characterized by episodic hyperkinetic movement attacks. We have recently identified mutations in the MR-1 gene causing familial PNKD. METHODS:We reviewed the clinical features of 14 kindreds with familial dyskinesia that was not clearly induced...

journal_title：Neurology

authors： Bruno MK,Lee HY,Auburger GW,Friedman A,Nielsen JE,Lang AE,Bertini E,Van Bogaert P,Averyanov Y,Hallett M,Gwinn-Hardy K,Sorenson B,Pandolfo M,Kwiecinski H,Servidei S,Fu YH,Ptácek L

更新日期：2007-05-22 00:00:00

abstract：:Fasciculations and cramps may occur in motor neuron disease or as part of a more benign syndrome. A man with apparently benign fasciculations and cramps for 4 years developed progressive muscle weakness and wasting. Such a previously undocumented evolution of benign fasciculations and cramps to motor neuron disease ma...

journal_title：Neurology

authors： Fleet WS,Watson RT

更新日期：1986-07-01 00:00:00

abstract：BACKGROUND:Bee sting therapy is increasingly used to treat patients with multiple sclerosis (MS) in the belief that it can stabilize or ameliorate the disease. However, there are no clinical studies to justify its use. METHODS:In a randomized, crossover study, we assigned 26 patients with relapsing-remitting or relaps...

journal_title：Neurology

authors： Wesselius T,Heersema DJ,Mostert JP,Heerings M,Admiraal-Behloul F,Talebian A,van Buchem MA,De Keyser J

更新日期：2005-12-13 00:00:00

abstract：OBJECTIVE:To evaluate interictal, circulating sphingolipids in women migraineurs. METHODS:In the fasting state, serum samples were obtained pain-free from 88 women with episodic migraine (EM; n=52) and from controls (n=36). Sphingolipids were detected and quantified by high-performance liquid chromatography coupled wi...

journal_title：Neurology

authors： Peterlin BL,Mielke MM,Dickens AM,Chatterjee S,Dash P,Alexander G,Vieira RV,Bandaru VV,Dorskind JM,Tietjen GE,Haughey NH

更新日期：2015-10-06 00:00:00

abstract：:We present a method for graphically reporting the results of brainstem auditory evoked response examinations on the basis of multiple parameters. The method is based on a transform that normalizes the many latency and amplitude measures obtained from the averaged evoked responses of normal subjects tested under standa...

journal_title：Neurology

authors： Lolas F,Hoeppner TJ,Morrell F

更新日期：1979-02-01 00:00:00

abstract：OBJECTIVE:To characterize humoral response to cerebellum in patients with gluten ataxia. BACKGROUND:Gluten ataxia is a common neurologic manifestation of gluten sensitivity. METHODS:The authors assessed the reactivity of sera from patients with gluten ataxia (13), newly diagnosed patients with celiac disease without ...

journal_title：Neurology

authors： Hadjivassiliou M,Boscolo S,Davies-Jones GA,Grünewald RA,Not T,Sanders DS,Simpson JE,Tongiorgi E,Williamson CA,Woodroofe NM

更新日期：2002-04-23 00:00:00

abstract：OBJECTIVE:To determine the prevalence of AD and other dementias in a rural elderly Hindi-speaking population in Ballabgarh in northern India. DESIGN:The authors performed a community survey of a cohort of 5,126 individuals aged 55 years and older, 73.3% of whom were illiterate. Hindi cognitive and functional screening...

journal_title：Neurology

authors： Chandra V,Ganguli M,Pandav R,Johnston J,Belle S,DeKosky ST

更新日期：1998-10-01 00:00:00

abstract：OBJECTIVE:To compare refractory convulsive status epilepticus (rSE) management and outcome in children with and without a prior diagnosis of epilepsy and with and without a history of status epilepticus (SE). METHODS:This was a prospective observational descriptive study performed from June 2011 to May 2016 on pediatr...

journal_title：Neurology

authors： Sánchez Fernández I,Jackson MC,Abend NS,Arya R,Brenton JN,Carpenter JL,Chapman KE,Gaillard WD,Gaínza-Lein M,Glauser TA,Goldstein JL,Goodkin HP,Helseth A,Kapur K,McDonough TL,Mikati MA,Peariso K,Riviello J Jr,Tasker RC

更新日期：2017-01-24 00:00:00

abstract：BACKGROUND:Polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome is a rare multisystem disorder associated with plasma cell dyscrasia. There is increasing evidence that high-dose chemotherapy with autologous peripheral blood stem cell transplantation (Auto-PBSCT) is an efficacious t...

journal_title：Neurology

authors： Kuwabara S,Misawa S,Kanai K,Suzuki Y,Kikkawa Y,Sawai S,Hattori T,Nishimura M,Nakaseko C

更新日期：2008-11-18 00:00:00

abstract：OBJECTIVE:To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery. METHODS:Through establishment of an international consortium we pooled 47 unsolved cases regarded by referring centers as ANCL. Clinical a...

journal_title：Neurology

authors： Berkovic SF,Staropoli JF,Carpenter S,Oliver KL,Kmoch S,Anderson GW,Damiano JA,Hildebrand MS,Sims KB,Cotman SL,Bahlo M,Smith KR,Cadieux-Dion M,Cossette P,Jedličková I,Přistoupilová A,Mole SE,ANCL Gene Discovery Consortiu

更新日期：2016-08-09 00:00:00

abstract：BACKGROUND:Multiple sclerosis (MS) is a neurodegenerative disease associated with marked impairments in health-related quality of life (HRQoL). Although standard clinical end points such as the Expanded Disability Status Scale and annualized relapse rate remain useful in assessing MS activity and severity, these measur...

journal_title：Neurology

authors： Miller D,Rudick RA,Hutchinson M

更新日期：2010-04-27 00:00:00