Homozygosity for the transthyretin-Met30 gene in three Japanese siblings with type I familial amyloidotic polyneuropathy.

abstract：:An 18-year-old man had noticed increasing difficulty in walking for 4 years. Examination disclosed spastic paraparesis and posterior column signs suggestive of subacute combined degeneration of the spinal cord. Urinalysis, urinary thin-layer chromatography, and intestinal biopsy disclosed typical cystinuria. Perniciou...

journal_title：Neurology

authors： De Myer W,Gebhard RL

更新日期：1975-10-01 00:00:00

abstract：:We report a family with an X-linked recessive disorder characterized by muscle cramps and myalgia. Nine affected male family members had high resting serum levels of creatine kinase, and well-developed musculature with calf hypertrophy but no evidence of muscular weakness. Symptoms began in childhood and did not progr...

journal_title：Neurology

authors： Gospe SM Jr,Lazaro RP,Lava NS,Grootscholten PM,Scott MO,Fischbeck KH

更新日期：1989-10-01 00:00:00

abstract：OBJECTIVE:To determine whether the cytokine tumor necrosis factor alpha (TNF-alpha) acts as a pain mediator in neuropathic pain in humans. BACKGROUND:In animal models, inflammatory cytokines such as TNF-alpha have been shown to facilitate neuropathic pain. METHODS:The expression of TNF-alpha was analyzed immunohistoc...

journal_title：Neurology

authors： Empl M,Renaud S,Erne B,Fuhr P,Straube A,Schaeren-Wiemers N,Steck AJ

更新日期：2001-05-22 00:00:00

abstract：:Among 50 patients with phenytoin intoxication, 14 had seizures during the episode. Seizures in 9 of these 14 patients probably resulted from poor seizure control despite high phenytoin levels, but in 5 cases, attacks were attributed to phenytoin toxicity. The only factor that seemed to correlate with seizures was a se...

journal_title：Neurology

authors： Stilman N,Masdeu JC

更新日期：1985-12-01 00:00:00

abstract：OBJECTIVE:To characterize the prevalence and prognostic significance of major driver molecular alterations in adult midline diffuse gliomas (MLG). METHODS:Adults with histologically proven MLG diagnosed between 1996 and 2017 were identified from our tumor bank, systematically reviewed, and reclassified according to WH...

journal_title：Neurology

authors： Picca A,Berzero G,Bielle F,Touat M,Savatovsky J,Polivka M,Trisolini E,Meunier S,Schmitt Y,Idbaih A,Hoang-Xuan K,Delattre JY,Mokhtari K,Di Stefano AL,Sanson M

更新日期：2018-06-05 00:00:00

abstract：:Photoparoxysmal response (PPR) is sometimes incidentally encountered in EEGs performed for evaluation of nonepileptic symptoms. We conducted the first long-term study of a cohort of nonepileptic patients to determine their risk of having seizures subsequent to incidental recording of PPR. After 6 to 12 years (mean, 9 ...

journal_title：Neurology

authors： So EL,Ruggles KH,Ahmann PA,Olson KA

更新日期：1993-09-01 00:00:00

abstract：OBJECTIVES:To examine associations between 1H magnetic resonance spectroscopic imaging (1H MRSI)-detected hippocampal creatine to N-acetylaspartate (Cr/NAA) ratios and neuropsychological measures sensitive to mesial temporal lobe function. BACKGROUND:The measurement of 1H MRSI-detected hippocampal metabolites has prov...

journal_title：Neurology

authors： Martin RC,Sawrie S,Hugg J,Gilliam F,Faught E,Kuzniecky R

更新日期：1999-12-10 00:00:00

abstract：OBJECTIVE:To study the association of PD with preceding smoking, alcohol, and coffee consumption using a case-control design. METHODS:The authors used the medical records linkage system of the Rochester Epidemiology Project to identify 196 subjects who developed PD in Olmsted County, MN, during the years 1976 to 1995....

journal_title：Neurology

authors： Benedetti MD,Bower JH,Maraganore DM,McDonnell SK,Peterson BJ,Ahlskog JE,Schaid DJ,Rocca WA

更新日期：2000-11-14 00:00:00

abstract：OBJECTIVE:To test efficacy and safety of atorvastatin in subjects with clinically isolated syndrome (CIS). METHODS:Subjects with CIS were enrolled in a phase II, double-blind, placebo-controlled, 14-center randomized trial testing 80 mg atorvastatin on clinical and brain MRI activity. Brain MRIs were performed quarter...

journal_title：Neurology

authors： Waubant E,Pelletier D,Mass M,Cohen JA,Kita M,Cross A,Bar-Or A,Vollmer T,Racke M,Stüve O,Schwid S,Goodman A,Kachuck N,Preiningerova J,Weinstock-Guttman B,Calabresi PA,Miller A,Mokhtarani M,Iklé D,Murphy S,Kopetskie

更新日期：2012-04-10 00:00:00

abstract：BACKGROUND:In acute cerebral ischemia, two variables characterize the extent of hypoperfusion: the volume of hypoperfused tissue and the intensity of hypoperfusion within these regions. We evaluated the determinants of the intensity of hypoperfusion within oligemic regions among patients who were eligible for recanaliz...

journal_title：Neurology

authors： Bang OY,Saver JL,Alger JR,Starkman S,Ovbiagele B,Liebeskind DS,UCLA Collateral Investigators.

更新日期：2008-11-25 00:00:00

abstract：OBJECTIVE:To localize a gene predisposing to benign epilepsy of childhood with centrotemporal spikes (BECTS). BACKGROUND:BECTS, or rolandic epilepsy, is the most prevalent idiopathic epilepsy syndrome in childhood. Functional relevant defects in the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor (ACh...

journal_title：Neurology

authors： Neubauer BA,Fiedler B,Himmelein B,Kämpfer F,Lässker U,Schwabe G,Spanier I,Tams D,Bretscher C,Moldenhauer K,Kurlemann G,Weise S,Tedroff K,Eeg-Olofsson O,Wadelius C,Stephani U

更新日期：1998-12-01 00:00:00

abstract：BACKGROUND:Patients with progressive supranuclear palsy (PSP) fall frequently, beginning early in the course of their disease. Abnormal vestibulospinal reflexes are suspected, but the angular vestibulo-ocular reflex, which is mediated by the labyrinthine semicircular canals, survives late into the course of the disease...

journal_title：Neurology

authors： Liao K,Wagner J,Joshi A,Estrovich I,Walker MF,Strupp M,Leigh RJ

更新日期：2008-03-04 00:00:00

abstract：:Because hereditary hyperekplexia results from a defect in the glycine receptor, we studied in five patients several spinal inhibitory pathways that are thought to use either glycine or gamma-aminobutyric acid as a neurotransmitter. Three patients had a mutation in the alpha1 subunit of the glycine receptor, whereas tw...

journal_title：Neurology

authors： Floeter MK,Andermann F,Andermann E,Nigro M,Hallett M

更新日期：1996-03-01 00:00:00

abstract：BACKGROUND:Whether recurrent epileptic seizures induce brain damage is debated. Disease progression in epilepsy has been evaluated only in a few community-based studies involving patients with seizures well controlled by medication. These studies concluded that epilepsy does not inevitably lead to global cerebral damag...

journal_title：Neurology

authors： Bernhardt BC,Worsley KJ,Kim H,Evans AC,Bernasconi A,Bernasconi N

更新日期：2009-05-19 00:00:00

abstract：:The incidence of MS was assessed in a nationwide cohort study of 31,990 employees of Danish utility companies between 1900 and 1993. Overall, 32 cases of MS were diagnosed, as compared with 23.7 expected from national incidence rates, to yield a standardized incidence ratio of 1.35 (95% confidence interval, 0.92 to 1....

journal_title：Neurology

authors： Johansen C,Koch-Henriksen N,Rasmussen S,Olsen JH

更新日期：1999-04-12 00:00:00

abstract：BACKGROUND:After 1 to 4 years, seizure-free children with epilepsy are encouraged to stop daily antiepileptic drug (AED) treatment. Approximately 70% are successful. The authors examined how often intractable epilepsy follows discontinuation of AED treatment in a population-based cohort of children with epilepsy. METH...

journal_title：Neurology

authors： Camfield P,Camfield C

更新日期：2005-03-22 00:00:00

abstract：:Most gliomas in neurofibromatosis type 1 (NF1) are pilocytic astrocytomas (PAs) of the optic pathway occurring in young children. However, some individuals develop gliomas that lack the typical NF1-associated clinical features or radiographic appearance. We identified 17 atypical presentations from a review of 100 pat...

journal_title：Neurology

authors： Leonard JR,Perry A,Rubin JB,King AA,Chicoine MR,Gutmann DH

更新日期：2006-10-24 00:00:00

abstract：:IV immunoglobulin therapy can lead to vascular events through increased serum viscosity and possibly other mechanisms. The authors describe the successful use of tissue plasminogen activator in three of four patients who developed cerebral and peripheral arterial thrombosis after treatment with IV immunoglobulin. ...

journal_title：Neurology

authors： Okuda D,Flaster M,Frey J,Sivakumar K

更新日期：2003-06-10 00:00:00

abstract：:Dapsone produces a potentially reversible toxic neuropathy, with its primary effect on the soma and axons of motor neurons as opposed to myelin. There is very little evidence to suggest involvement of sensory axons in most cases; if present, it would appear minimal. A "dying back" of motor axons is postulated to produ...

journal_title：Neurology

authors： Gutmann L,Martin JD,Welton W

更新日期：1976-06-01 00:00:00

abstract：OBJECTIVE:Guillain-Barré syndrome (GBS) is characterized by nerve infiltration of leukocytes and autoantibodies of the immunoglobulin G (IgG) isotype directed against nerve constituents. Leukocyte receptors for IgG (FcgammaR) constitute an important link between the humoral and cellular parts of the immune system and c...

journal_title：Neurology

authors： van der Pol WL,van den Berg LH,Scheepers RH,van der Bom JG,van Doorn PA,van Koningsveld R,van den Broek MC,Wokke JH,van de Winkel JG

更新日期：2000-04-25 00:00:00

abstract：:Systematic screening of many compounds in animal models led to identification of the established antiepileptic drugs (AEDs). By contrast, the newer AEDs were specifically designed to enhance an inhibitory process or to inhibit a specific excitatory pathway. However, it was later discovered that some of the designed dr...

journal_title：Neurology

authors： Moshé SL

更新日期：2000-01-01 00:00:00

abstract：:In a 20-year-old patient with the classic form of Pelizaeus-Merzbacher disease, electroencephalograms during wakefulness were moderately diffusely abnormal, and an overnight polygraphic sleep recording showed distorted nonrapid eye movement sleep patterns without vertex sharp waves, K-complexes, spindles, or positive ...

journal_title：Neurology

authors： Wilkus RJ,Farrell DF

更新日期：1976-11-01 00:00:00

abstract：BACKGROUND:Findings from a small clinical study suggested that statins may counteract the therapeutic effects of interferon beta (IFNbeta) in patients with relapsing-remitting multiple sclerosis (RRMS). METHODS:We conducted a post hoc analysis of data from the Safety and Efficacy of Natalizumab in Combination With IFN...

journal_title：Neurology

authors： Rudick RA,Pace A,Rani MR,Hyde R,Panzara M,Appachi S,Shrock J,Maurer SL,Calabresi PA,Confavreux C,Galetta SL,Lublin FD,Radue EW,Ransohoff RM

更新日期：2009-06-09 00:00:00

abstract：:The Finnish Twin Cohort includes all Finnish same-sexed twins born before 1958 and alive in 1967; the number of individuals alive in 1975 was 33,247. We performed a search for cases with Parkinson's disease among this cohort by linking the Twin Cohort Register with the Finnish Hospital Discharge Register and the Finni...

journal_title：Neurology

authors： Marttila RJ,Kaprio J,Koskenvuo M,Rinne UK

更新日期：1988-08-01 00:00:00

abstract：:The authors carried out a three-phase door-to-door survey in Atahualpa, Ecuador to assess epidemiologic and pathogenetic mechanisms of stroke. They found 10 stroke patients among 1,568 individuals aged > or =15 years (crude prevalence, 638 per 100,000). There was only one incident case (incidence, 64 per 100,000). Six...

journal_title：Neurology

authors： Del Brutto OH,Idrovo L,Mosquera A,Navas C,Santibáñez R,Cuesta F,Díaz-Calderón E

更新日期：2004-11-23 00:00:00

abstract：:The authors report a patient with chorea and multifocal neurologic abnormalities associated with a small-cell lung carcinoma. A previously unreported antibody directed at a 76-kD neuronal protein antigen was identified in both serum and CSF. Antitumor treatment resulted in dramatic and sustained clinical neurologic an...

journal_title：Neurology

authors： Croteau D,Owainati A,Dalmau J,Rogers LR

更新日期：2001-08-28 00:00:00

abstract：:All Olmsted County, Minnesota, residents who experienced brain injury from 1935 through 1979 were identified and their medical records reviewed for survival and neurologic outcome. Minimum inclusion criteria included loss of consciousness or post-traumatic amnesia or neurologic evidence of brain injury or skull fractu...

journal_title：Neurology

authors： Wiederholt WC,Melton LJ 3rd,Annegers JF,Grabow JD,Laws ER Jr,Ilstrup DM

更新日期：1989-01-01 00:00:00

abstract：:A kindred is described with a dominantly inherited "pure" cerebellar ataxia in which the currently known spinocerebellar ataxias have been excluded. In the eight subjects studied, a notable clinical feature is slow progression, with the three least affected having only a mild degree of gait ataxia after three or more ...

journal_title：Neurology

authors： Storey E,Gardner RJ,Knight MA,Kennerson ML,Tuck RR,Forrest SM,Nicholson GA

更新日期：2001-11-27 00:00:00

abstract：OBJECTIVE:To describe the phenotypic spectrum and genetics of periventricular nodular heterotopia (PNH) caused by FLN1 mutations in four men. BACKGROUND:X-linked PNH caused by FLN1 mutations (MIM #300049) implies prenatal or early postnatal lethality in boys and 50% recurrence risk in daughters of affected women. MET...

journal_title：Neurology

authors： Guerrini R,Mei D,Sisodiya S,Sicca F,Harding B,Takahashi Y,Dorn T,Yoshida A,Campistol J,Krämer G,Moro F,Dobyns WB,Parrini E

更新日期：2004-07-13 00:00:00

abstract：OBJECTIVE:To determine the relationship between neurology inpatient satisfaction and (1) number of physicians involved in the patient's care and (2) patients' ability to identify their physicians. METHODS:A 10-item questionnaire addressing patient satisfaction and identification of physicians on the care team was admi...

journal_title：Neurology

authors： Leon Guerrero CR,Anderson T,Zazulia AR

更新日期：2018-02-13 00:00:00