Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers.

abstract：OBJECTIVE:Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. METHOD:Herein, we describe 4 novel homozygous FA2H mutations in 4 nonconsanguineous families detected by whole-exome sequencing or a targeted gene panel analysis providing high coverage of all known hereditary spastic...

journal_title：Neurology

authors： Soehn AS,Rattay TW,Beck-Wödl S,Schäferhoff K,Monk D,Döbler-Neumann M,Hörtnagel K,Schlüter A,Ruiz M,Pujol A,Züchner S,Riess O,Schüle R,Bauer P,Schöls L

更新日期：2016-07-12 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：:A 12-year-old girl developed simple partial motor and sensory seizures due to a right perirolandic astrocytoma. Subdural EEG recording and functional stimulation disclosed close correlation between EEG-clinical manifestations of focal seizures and functional responses to cortical stimulation. This case supports the id...

journal_title：Neurology

authors： Arroyo S,Krauss GL,Lesser RP,Gordon B,Hart J Jr,Carson BS,Uematsu S

更新日期：1992-03-01 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：:We found an antinuclear antibody highly restricted to nuclei of neurons in two patients with subacute sensory neuronopathy complicating oat cell carcinoma of the lung. Serum was tested by indirect immunofluorescence and immunoperoxidase staining. At low concentrations of antibody, only the nuclei of the neurons were s...

journal_title：Neurology

authors： Graus F,Cordon-Cardo C,Posner JB

更新日期：1985-04-01 00:00:00

abstract：OBJECTIVE:To investigate the clinical profile of rofecoxib, a long-acting (approximately 17-hour half-life) selective cyclo-oxygenase-2 inhibitor, for the acute treatment of migraine. METHODS:A randomized, double-blind, placebo-controlled, parallel-group study was conducted. Patients age > or =18 treated a moderate or...

journal_title：Neurology

authors： Silberstein S,Tepper S,Brandes J,Diamond M,Goldstein J,Winner P,Venkatraman S,Vrijens F,Malbecq W,Lines C,Visser WH,Reines S,Yuen E

更新日期：2004-05-11 00:00:00

abstract：:To explore the clinical heterogeneity associated with the Friedreich's ataxia (FRDA) expanded repeat and provide preliminary guidance for future gene testing in patients suspected of having FRDA, we tested patients with typical FRDA (group I), late-onset FRDA or FRDA with retained reflexes (group II), as well as those...

journal_title：Neurology

authors： Geschwind DH,Perlman S,Grody WW,Telatar M,Montermini L,Pandolfo M,Gatti RA

更新日期：1997-10-01 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：:In six patients with cryptococcal meningitis, diagnosis was made by routine cytologic examination of cerebrospinal fluid (CSF). A seventh patient had a false-positive cryptococcal antigen titer, and no organism was seen on SCF examination. The patient had herpes simplex encephalitis on brain biopsy. Cytologic examinat...

journal_title：Neurology

authors： Bernad PG,Szyfelbein WM,Weiss HD,Richardson EP Jr

更新日期：1980-01-01 00:00:00

abstract：:Acute in-stent thrombosis is a well-known complication of carotid angioplasty and stenting (CAS) and often due to resistance to or inadequate treatment with platelet-inhibiting agents. The authors report three cases of a delayed in-stent thrombosis after more than a week but less than 3 months after CAS. In all cases,...

journal_title：Neurology

authors： Buhk JH,Wellmer A,Knauth M

更新日期：2006-05-23 00:00:00

abstract：:We examined serum-mediated cytotoxicity on cultured rat oligodendrocytes, using serum from patients with acute or chronic progressive multiple sclerosis and normal controls. We found heat-labile serum factors in serum from MS and also in controls. The cytotoxic effects of MS and normal sera were not restored by adding...

journal_title：Neurology

authors： Hirayama M,Lisak RP,Silberberg DH

更新日期：1986-02-01 00:00:00

abstract：OBJECTIVE:The aim of this prospective study was to survey our patients about their experience with our clinic's telemedicine program to better understand telemedicine's utility for families, and to improve patient satisfaction and ultimately patient care. METHODS:This was a prospective survey study of patients and the...

journal_title：Neurology

authors： Qubty W,Patniyot I,Gelfand A

更新日期：2018-05-08 00:00:00

abstract：:To test interphysician agreement on the diagnosis of subtype of ischemic stroke, we sent subtype definitions and 18 case summaries (clinical features and pertinent laboratory data) to 24 neurologists who have a special interest in stroke, and asked them to determine the most likely subtype diagnosis. The overall agree...

journal_title：Neurology

authors： Gordon DL,Bendixen BH,Adams HP Jr,Clarke W,Kappelle LJ,Woolson RF

更新日期：1993-05-01 00:00:00

abstract：:Inhibitory antibody to von Willebrand factor (vWF)-cleaving protease (ADAMTS13) was detected in a patient with intravascular lymphomatosis. The increased serum level of the antibody paralleled an increase in the expression of uncleaved vWF, which might cause microvascular thrombosis and platelet consumption. Malignant...

journal_title：Neurology

authors： Kawahara M,Kanno M,Matsumoto M,Nakamura S,Fujimura Y,Ueno S

更新日期：2004-11-09 00:00:00

abstract：OBJECTIVE:To compare the clinical features of patients with chronic daily headache (CDH) with idiopathic intracranial hypertension without papilledema (IIHWOP) to those with normal CSF pressure. METHODS:A case-control study was conducted at a tertiary headache center. Cases consisted of 25 consecutive patients (24 wom...

journal_title：Neurology

authors： Wang SJ,Silberstein SD,Patterson S,Young WB

更新日期：1998-07-01 00:00:00

abstract：:The progressive myoclonus epilepsies (PMEs) are a devastating group of rare disorders(1) that manifest with increasing action myoclonus, which is also present at rest but activates with stimuli such as noise, light, or touch. Ultimately, patients become wheelchair-bound and experience early death. Neurologic signs tha...

journal_title：Neurology

authors： Knupp K,Wirrell E

更新日期：2014-02-04 00:00:00

abstract：:We report the cases of three siblings homozygous for a mutated transthyretin (TTR) gene that causes type I familial amyloidotic polyneuropathy (FAP), in whom we made the diagnosis by identifying both the mutated TTR gene and a variant TTR in their sera. Their serum levels for the variant TTR are twice those of patient...

journal_title：Neurology

authors： Yoshinaga T,Nakazato M,Ikeda S,Ohnishi A

更新日期：1992-10-01 00:00:00

abstract：:In four patients who received periocular injections of botulinum toxin for blepharospasm, abnormal neuromuscular transmission was demonstrated by single-fiber EMG in arm muscles. The time course with which the abnormalities developed and cleared, as well as the inverse relationship between the neuromuscular jitter and...

journal_title：Neurology

authors： Sanders DB,Massey EW,Buckley EG

更新日期：1986-04-01 00:00:00

abstract：:The authors evaluated response, time to progression (TTP), survival, prognostic factors, and toxicity in 63 patients with a recurrent glioblastoma multiforme treated with procarbazine, lomustine, and vincristine (PCV) chemotherapy. Complete and partial response was observed in two (3%) and five patients (8%). In 16 pa...

journal_title：Neurology

authors： Kappelle AC,Postma TJ,Taphoorn MJ,Groeneveld GJ,van den Bent MJ,van Groeningen CJ,Zonnenberg BA,Sneeuw KC,Heimans JJ

更新日期：2001-01-09 00:00:00

abstract：:We carried out an open study of the effects of large doses (12 to 16 gm per day) of oral choline on medically intractable human complex partial seizures (CPS). Marked increases of plasma choline concentration (75 to 300%) in three subjects were associated with (1) shorter duration of CPS, (2) less postseizure fatigue,...

journal_title：Neurology

authors： McNamara JO,Carwile S,Hope V,Luther J,Miller P

更新日期：1980-12-01 00:00:00

abstract：:This double-blind, placebo-controlled, multicenter, crossover study investigated the efficacy and tolerability of sumatriptan administered for up to three separate migraine attacks. One hundred twenty adults received sumatriptan (SC, 6 mg; three attacks) and placebo (one attack). Patients completed questionnaires asse...

journal_title：Neurology

authors： Cady RK,Dexter J,Sargent JD,Markley H,Osterhaus JT,Webster CJ

更新日期：1993-07-01 00:00:00

abstract：:Neurologic complications of both the central and peripheral nervous systems occur frequently in patients with primary Sjögren's syndrome (primary SS), but the underlying cause of these complications is unknown. We studied the presence of antineuronal antibodies in relation to neurologic complications in a consecutive ...

journal_title：Neurology

authors： Moll JW,Markusse HM,Pijnenburg JJ,Vecht CJ,Henzen-Logmans SC

更新日期：1993-12-01 00:00:00

abstract：:We tested three serotonin antagonists--lysergic acid diethylamide (LSD), 2-bromolysergic acid diethylamide (BOL), and cinanserin--for effects on experimental spinal cord ischemia in the rabbit. Blood flow to spinal cord was obstructed. Drugs were administered before or after initiation of occlusion, and flow was later...

journal_title：Neurology

authors： Zivin JA,Venditto JA

更新日期：1984-04-01 00:00:00

abstract：:Although neurophysiologic doctrine has traditionally referred to "the" voltage-gated sodium channel, it is now clear that there are at least nine genes that encode molecularly and physiologically distinct sodium channels. Mutations of sodium channel genes provide a basis for genetic channelopathies. Dysregulated expre...

journal_title：Neurology

authors： Waxman SG

更新日期：2001-06-26 00:00:00

abstract：:This cross-sectional mail survey evaluated the prevalence and predictors of unconventional therapy (UT) utilization among 569 community-based people with MS. One-third reported having visited a UT practitioner in the last 6 months. Utilizers tended to report at least one medical comorbidity, earn at least $50,000 a ye...

journal_title：Neurology

authors： Schwartz CE,Laitin E,Brotman S,LaRocca N

更新日期：1999-02-01 00:00:00

abstract：BACKGROUND:The antivirally active MxA protein is induced by interferon (IFN) alpha/beta and inhibits the replication of single-stranded RNA viruses including measles virus (MV). The authors investigated whether the MxA gene contributed to the development of subacute sclerosing panencephalitis (SSPE) in Japanese individ...

journal_title：Neurology

authors： Torisu H,Kusuhara K,Kira R,Bassuny WM,Sakai Y,Sanefuji M,Takemoto M,Hara T

更新日期：2004-02-10 00:00:00

abstract：:We studied two patients with Meige syndrome who developed alpha-methyldopa-induced parkinsonism. Opposite responses of parkinsonian and dystonic symptoms to antiparkinson drugs in some cases suggest a functionally reciprocal relationship between these disorders. ...

journal_title：Neurology

authors： Sechi GP,Demontis G,Rosati G

更新日期：1985-11-01 00:00:00

abstract：:Ten patients with refractory temporal lobe epilepsy performed a word-position association learning task every 24 hours during video EEG monitoring. On 55 occasions recall performance was tested 30 minutes and 24 hours after the initial learning phase. Patients with left- but not right-sided temporal lobe epilepsy exhi...

journal_title：Neurology

authors： Jokeit H,Daamen M,Zang H,Janszky J,Ebner A

更新日期：2001-07-10 00:00:00

abstract：OBJECTIVE:To evaluate the effectiveness of yoga as an adjuvant to conventional medical management on clinical outcomes in patients with migraine. METHODS:CONTAIN was a prospective, randomized, open-label superiority trial with blinded endpoint assessment carried out at a single tertiary care academic hospital in New D...

journal_title：Neurology

authors： Kumar A,Bhatia R,Sharma G,Dhanlika D,Vishnubhatla S,Singh RK,Dash D,Tripathi M,Srivastava MVP

更新日期：2020-05-26 00:00:00

abstract：:Pearson syndrome is a systemic disorder of oxidative phosphorylation in infants, predominantly affecting the bone marrow and exocrine pancreas and associated with single deletions in mitochondrial DNA (mtDNA). CNS involvement may occur in patients who survive the infantile hematopoietic disorder. We describe a Pearson...

journal_title：Neurology

authors： Santorelli FM,Barmada MA,Pons R,Zhang LL,DiMauro S

更新日期：1996-11-01 00:00:00