A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.

abstract：:Coenzyme Q10 (CoQ10) transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There is one published report of human CoQ10 deficiency describing two sisters with encephalopathy, proximal weakness, myoglobinuria, and lactic acidosis. We report a patient who had delayed motor mi...

journal_title：Neurology

authors： Sobreira C,Hirano M,Shanske S,Keller RK,Haller RG,Davidson E,Santorelli FM,Miranda AF,Bonilla E,Mojon DS,Barreira AA,King MP,DiMauro S

更新日期：1997-05-01 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：:We performed a clinical study and linkage analysis on 278 subjects (66 affected) belonging to eight families with X-linked dominant Charcot-Marie-Tooth (CMT) neuropathy. This form affects 11.8% of CMT patients in Iowa. Motor nerve conduction velocities (MNCVs) were significantly slowed consistent with type 1 CMT. Fift...

journal_title：Neurology

authors： Ionasescu VV,Trofatter J,Haines JL,Ionasescu R,Searby C

更新日期：1992-04-01 00:00:00

abstract：:Previous reports and the Physicians' Desk Reference caution against the use of levodopa in Parkinson's disease (PD) patients with melanoma. A critical review of the literature reveals only anecdotal evidence to support a link between levodopa and melanoma. In fact, levodopa has an antitumor effect on melanoma. We repo...

journal_title：Neurology

authors： Weiner WJ,Singer C,Sanchez-Ramos JR,Goldenberg JN

更新日期：1993-04-01 00:00:00

abstract：OBJECTIVE:Histologic studies show that the amygdala is affected by Alzheimer disease (AD) pathology, and its medial aspect is the most involved. We aimed to assess in vivo local structural differences in the amygdala of patients with AD using high-field MRI. METHODS:A total of 19 patients with AD (mean age 76, SD 6 ye...

journal_title：Neurology

authors： Cavedo E,Boccardi M,Ganzola R,Canu E,Beltramello A,Caltagirone C,Thompson PM,Frisoni GB

更新日期：2011-02-22 00:00:00

abstract：:We examined the baseline characteristics of patients in the Ticlopidine Aspirin Stroke Study (TASS) to determine if the effects of the two treatments in preventing stroke differed in various subgroups. Patients with the following characteristics did less well on aspirin: elevated creatinine, hypertension or diabetes r...

journal_title：Neurology

authors： Grotta JC,Norris JW,Kamm B

更新日期：1992-01-01 00:00:00

abstract：OBJECTIVES:The objective of this study was to clarify the characteristic brain MRI findings for genetically diagnosed CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy). METHODS:Seven patients with CARASIL carrying HTRA1 mutations (representing 6 Japanese families) we...

journal_title：Neurology

authors： Nozaki H,Sekine Y,Fukutake T,Nishimoto Y,Shimoe Y,Shirata A,Yanagawa S,Hirayama M,Tamura M,Nishizawa M,Onodera O

更新日期：2015-08-04 00:00:00

abstract：:There are reports that patients with Parkinson's disease (PD) and Alzheimer's disease (AD) have reduced levels of thiolmethyltransferase (TMT) in erythrocyte membranes. TMT methylates thiols and thiocarbamates, thereby reducing their toxicity. We examined TMT levels in erythrocytes from patients with PD and AD and fro...

journal_title：Neurology

authors： Hurwitz A,Hubble JP,Glatt SL,Koller WC,Pollack J

更新日期：1995-10-01 00:00:00

abstract：:We evaluated ventilation during cycle exercise in four men lacking myophosphorylase. In submaximal exercise of similar relative intensity, ventilation was higher relative to oxygen uptake in McArdle patients than in normal men. The exercise ventilatory response returned to normal after glucose infusion, by fasting to ...

journal_title：Neurology

authors： Haller RG,Lewis SF

更新日期：1986-05-01 00:00:00

abstract：:A 33-year-old man with complex partial seizures developed de novo hypertension after the initiation of carbamazepine, which resolved on discontinuation. Although rare, a variety of cardiovascular effects including hypertension have been reported with carbamazepine. Numerous mechanisms may be responsible; however, shar...

journal_title：Neurology

authors： Jette N,Veregin T,Guberman A

更新日期：2002-07-23 00:00:00

abstract：:Between 1982 and 1989, 197 patients with Parkinson's disease were treated with selegiline and levodopa for at least 0.3 years. Two groups of patients were included: a group of 65 patients (stage 2 or 3 on the Hoehn and Yahr Scale) who recently had been started on levodopa and were not experiencing response fluctuation...

journal_title：Neurology

authors： Lieberman A

更新日期：1992-04-01 00:00:00

abstract：BACKGROUND:Virtually all adult studies of APOE genotypes and cognition have included individuals over 60. In older adults, epsilon 4 carriers may manifest greater cognitive asymmetries than non-epsilon 4 carriers even in the absence of overall mean differences. General cognitive ability may also be affected by aging an...

journal_title：Neurology

authors： Schultz MR,Lyons MJ,Franz CE,Grant MD,Boake C,Jacobson KC,Xian H,Schellenberg GD,Eisen SA,Kremen WS

更新日期：2008-05-06 00:00:00

abstract：OBJECTIVE:Rebleeding of an aneurysm is a leading cause of morbidity and mortality after subarachnoid hemorrhage (SAH). Whereas numerous studies have demonstrated the risk factors associated with rebleeding, few data on complications of rebleeding, including its effect on the development of delayed cerebral ischemia (DC...

journal_title：Neurology

authors： Lord AS,Fernandez L,Schmidt JM,Mayer SA,Claassen J,Lee K,Connolly ES,Badjatia N

更新日期：2012-01-03 00:00:00

abstract：BACKGROUND:Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently described, underrecognized neurodegenerative disorder of aging fragile X mental retardation 1 (FMR1) premutation carriers, particularly men. Core motor features are action tremor, gait ataxia, and parkinsonism. Carriers have expanded CGG repea...

journal_title：Neurology

authors： Leehey MA,Berry-Kravis E,Goetz CG,Zhang L,Hall DA,Li L,Rice CD,Lara R,Cogswell J,Reynolds A,Gane L,Jacquemont S,Tassone F,Grigsby J,Hagerman RJ,Hagerman PJ

更新日期：2008-04-15 00:00:00

abstract：:We used two analytic methods (a multichannel coulometric electrode array with high-performance liquid chromatography, and gas chromatography-mass spectrophotometry) to measure CSF dopamine (DA) and its metabolites in mildly affected, unmedicated subjects with Parkinson's disease (PD). The mean (+/- SD) concentration o...

journal_title：Neurology

authors： LeWitt PA,Galloway MP,Matson W,Milbury P,McDermott M,Srivastava DK,Oakes D

更新日期：1992-11-01 00:00:00

abstract：OBJECTIVE:To report long-term safety and efficacy outcomes of a large cohort of patients with medically refractory isolated dystonia treated with subthalamic nucleus (STN) deep brain stimulation (DBS). METHODS:Twenty patients (12 male, 8 female; mean age 49 ± 16.3 years) with medically refractory isolated dystonia wer...

journal_title：Neurology

authors： Ostrem JL,San Luciano M,Dodenhoff KA,Ziman N,Markun LC,Racine CA,de Hemptinne C,Volz MM,Heath SL,Starr PA

更新日期：2017-01-03 00:00:00

abstract：:We describe an atypical neurologic presentation of Wegener's granulomatosis (WG) with striking meningeal and cerebral involvement, responding to immunosuppressive therapy. WG may cause treatable intracranial complications in the absence of nasal or renal disease and without cerebral angiographic abnormalities, CSF ple...

journal_title：Neurology

authors： Weinberger LM,Cohen ML,Remler BF,Naheedy MH,Leigh RJ

更新日期：1993-09-01 00:00:00

abstract：OBJECTIVE:To investigate the effect of optimal combination of evidence-based drug therapies including antihypertensive agents, lipid modifiers, and antithrombotic agents on risk of recurrent vascular events after stroke. METHODS:We analyzed the database of a multicenter trial involving 3,680 recent noncardioembolic st...

journal_title：Neurology

authors： Park JH,Ovbiagele B

更新日期：2015-01-06 00:00:00

abstract：BACKGROUND:Biomarker levels in blood after traumatic brain injury (TBI) may offer diagnostic and prognostic tools in addition to clinical indices. This study aims to validate glial fibrillary acidic protein (GFAP) and S100B concentrations in blood as outcome predictors of TBI using cutoff levels of 1.5 μg/L for GFAP an...

journal_title：Neurology

authors： Vos PE,Jacobs B,Andriessen TM,Lamers KJ,Borm GF,Beems T,Edwards M,Rosmalen CF,Vissers JL

更新日期：2010-11-16 00:00:00

abstract：:We studied the effects of bromocriptine on periodic limb movements in sleep (PLMS) of narcoleptic patients. Bromocriptine significantly reduced the number and index of PLMS without improving the nocturnal sleep disruption in that disorder. These results support the hypothesis that dopaminergic mechanisms are involved ...

journal_title：Neurology

authors： Boivin DB,Lorrain D,Montplaisir J

更新日期：1993-10-01 00:00:00

abstract：:Homolateral ataxia and crural paresis is a recognized vascular syndrome. However, confirmation of the causative lesion rests principally on one earlier case with multiple other infarcts. We studied a patient with the clinical syndrome; computerized tomography revealed a lucency that appeared within 1 week of the infar...

journal_title：Neurology

authors： Perman GP,Racy A

更新日期：1980-09-01 00:00:00

abstract：OBJECTIVE:Evidence of a relation between use of lipid lowering drugs and cognitive outcomes is mixed. This study aimed to test the association between use of statins and incidence of dementia and cognitive impairment without dementia (CIND) over 5 years of follow-up. METHODS:Data were from a population-based cohort st...

journal_title：Neurology

authors： Cramer C,Haan MN,Galea S,Langa KM,Kalbfleisch JD

更新日期：2008-07-29 00:00:00

abstract：OBJECTIVE:To better understand the epileptogenesis of symptomatic generalized epilepsy in patients with hypothalamic hamartoma and intractable epilepsy, many of whom experience remission of generalized seizures and slow spike-wave discharges following surgery. METHODS:The authors documented the evolution of symptomati...

journal_title：Neurology

authors： Freeman JL,Harvey AS,Rosenfeld JV,Wrennall JA,Bailey CA,Berkovic SF

更新日期：2003-03-11 00:00:00

abstract：OBJECTIVE:Learning and memory impairments are prevalent among persons with multiple sclerosis (MS); however, such deficits are only weakly associated with MS disease severity (brain atrophy). The cognitive reserve hypothesis states that greater lifetime intellectual enrichment lessens the negative impact of brain disea...

journal_title：Neurology

authors： Sumowski JF,Wylie GR,Chiaravalloti N,DeLuca J

更新日期：2010-06-15 00:00:00

abstract：:The frequency, patterns of inheritance and clinical phenotypes of inherited myopathies with histologic features of rimmed vacuoles, tubulofilamentous inclusions and absence of inflammation (familial and hereditary inclusion body myopathy [f-IBM]) are poorly defined. Quadriceps sparing is a characteristic of f-IBM seen...

journal_title：Neurology

authors： Sivakumar K,Dalakas MC

更新日期：1996-10-01 00:00:00

abstract：:In many parkinsonian syndromes, neuromelanin (NM)-containing dopaminergic neurons of the substantia nigra (SN) are selectively targeted by the noxius pathogens. Studies of the constitutional and functional features of human NM allow the formulation of a logical hypothesis on its role in parkinsonian syndromes. In the ...

journal_title：Neurology

authors： Zecca L,Zucca FA,Albertini A,Rizzio E,Fariello RG

更新日期：2006-10-10 00:00:00

abstract：:CSF lymphocyte subpopulations of eight patients with neurosarcoidosis were examined. CSF or CT was abnormal in all. The CSF T4/T8 (helper/suppressor) ratio was elevated at 6.8 and 7.6 in two patients; in one, there were only CSF T4 cells. The ratio was normal in five patients. ...

journal_title：Neurology

authors： Stern BJ,Griffin DE,Luke RA,Krumholz A,Johns CJ

更新日期：1987-05-01 00:00:00

abstract：BACKGROUND:Open clinical trials indicate that low doses of pergolide, a long-acting D1 and D2 dopamine agonist, lead to a reduction in the symptoms of restless legs syndrome (RLS) with subjective improvement in sleep quality. OBJECTIVE:To assess the therapeutic efficacy of pergolide in improving sleep and subjective m...

journal_title：Neurology

authors： Wetter TC,Stiasny K,Winkelmann J,Buhlinger A,Brandenburg U,Penzel T,Medori R,Rubin M,Oertel WH,Trenkwalder C

更新日期：1999-03-23 00:00:00

abstract：:Pergolide, a long-acting central dopamine agonist, was used as monotherapy in 16 parkinsonian patients. A mean daily dose of 6.3 mg resulted in 73% improvement of parkinsonian disability. Clinical improvement after acute administration of one dose of pergolide was similar to that observed after levodopa plus a periphe...

journal_title：Neurology

authors： Mear JY,Barroche G,de Smet Y,Weber M,Lhermitte F,Agid Y

更新日期：1984-07-01 00:00:00

abstract：OBJECTIVE:To report eight cases of sensory Guillain-Barré syndrome (GBS). BACKGROUND:The concept of sensory equivalent to ascending paralysis of GBS was raised in 1958, and the diagnostic criteria for a sensory loss and areflexia variant of GBS were proposed in 1981. However, clinical cases meeting these criteria have...

journal_title：Neurology

authors： Oh SJ,LaGanke C,Claussen GC

更新日期：2001-01-09 00:00:00