The nigrostriatal dopaminergic system in familial early onset parkinsonism with parkin mutations.

abstract：OBJECTIVE:In children with and without infantile spasms, this study determined brain volumes and cell densities in epilepsy surgery patients with tuberous sclerosis complex (TSC) and cortical dysplasia with balloon cells (CD). METHODS:We compared TSC (n = 18) and CD (n = 17) patients with normal/autopsy controls (n = ...

journal_title：Neurology

authors： Chandra PS,Salamon N,Nguyen ST,Chang JW,Huynh MN,Cepeda C,Leite JP,Neder L,Koh S,Vinters HV,Mathern GW

更新日期：2007-02-06 00:00:00

abstract：OBJECTIVE:To test the hypothesis that transcranial magnetic resonance-guided focused ultrasound (tcMRgFUS) thalamotomy is effective, durable, and safe for patients with medication-refractory essential tremor (ET), we assessed clinical outcomes at 3-year follow-up of a controlled multicenter prospective trial. METHODS:...

journal_title：Neurology

authors： Halpern CH,Santini V,Lipsman N,Lozano AM,Schwartz ML,Shah BB,Elias WJ,Cosgrove GR,Hayes MT,McDannold N,Aldrich C,Eisenberg HM,Gandhi D,Taira T,Gwinn R,Ro S,Witt J,Jung NY,Chang JW,Rosenberg J,Ghanouni P

更新日期：2019-12-10 00:00:00

abstract：OBJECTIVE:To investigate the lateralization and localization of ictal EEG in focal epilepsy. METHODS:A total of 486 ictal EEG of 72 patients with focal epilepsy arising from the mesial temporal, neocortical temporal, mesial frontal, dorsolateral frontal, parietal, and occipital regions were analyzed. RESULTS:Surface ...

journal_title：Neurology

authors： Foldvary N,Klem G,Hammel J,Bingaman W,Najm I,Lüders H

更新日期：2001-12-11 00:00:00

abstract：:Generic substitution is practiced widely in both hospital and community settings. There have been several reports of reduced serum concentrations and seizure exacerbation following generic substitution of Tegretol. We describe the first 2 cases of carbamazepine toxicity resulting from the substitution of Tegretol with...

journal_title：Neurology

authors： Gilman JT,Alvarez LA,Duchowny M

更新日期：1993-12-01 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：:Fatigue is a common but poorly understood symptom in Parkinson's disease (PD). Using previously validated scales, we asked 58 nondemented PD patients and 58 controls to fill out questionnaires assessing fatigue and depression and found that PD patients were more depressed and more fatigued than age-matched controls. A...

journal_title：Neurology

authors： Friedman J,Friedman H

更新日期：1993-10-01 00:00:00

abstract：OBJECTIVE:Cerebral cavernous malformations (CCM) occur in familial and sporadic forms that cannot be distinguished by phenotype. Mutations in Krit1, a gene located at the CCM1 locus on chromosome 7q21, account for the majority of familial CCM cases. The authors investigated the role that mutations at the CCM1 locus pla...

journal_title：Neurology

authors： Reich P,Winkler J,Straube A,Steiger HJ,Peraud A

更新日期：2003-04-08 00:00:00

abstract：:Despite strong evidence of the importance of hereditary factors in the etiology of Tourette's syndrome (TS), research findings have consistently pointed to a role of environmental influences. A recent line of research has suggested that tic disorders and associated behavioral disturbances, such as obsessive-compulsive...

journal_title：Neurology

authors： Kurlan R

更新日期：1998-06-01 00:00:00

abstract：OBJECTIVE:To use a combined neurogenetic-neuroimaging approach to examine the functional consequences of preclinical dopaminergic nigrostriatal dysfunction in the human motor system. Specifically, we examined how a single heterozygous mutation in different genes associated with recessively inherited Parkinson disease a...

journal_title：Neurology

authors： van Nuenen BF,Weiss MM,Bloem BR,Reetz K,van Eimeren T,Lohmann K,Hagenah J,Pramstaller PP,Binkofski F,Klein C,Siebner HR

更新日期：2009-03-24 00:00:00

abstract：:The clinical and electroencephalographic (EEG) effects of sodium valproate were studied in four patients by means of serial 24-hour EEG recordings and simultaneous hourly determinations of serum drug concentrations. The patients all had frequent clinical seizures and generalized spike-wave discharges. Valproate appear...

journal_title：Neurology

authors： Rowan AJ,Binnie CD,de Beer-Pawlikowski NK,Goedhart DM,Gutter T,van der Geest P,Meinardi H,Meijer JW

更新日期：1979-11-01 00:00:00

abstract：:We tested the hypothesis that an anticardiolipin antibody (aCL) titer of > or = 10 IgG phospholipid (GPL) at the time of an index ischemic stroke is associated with an increased risk of subsequent thrombo-occlusive events or death. First-time ischemic stroke patients from the Antiphospholipid Antibodies and Stroke Stu...

journal_title：Neurology

authors：

更新日期：1997-01-01 00:00:00

abstract：BACKGROUND:Subjective memory deficit (SMD) is one of few potential presenting symptoms for people with early cognitive impairment. However, associations with underlying brain changes are unclear. METHODS:In a community sample of 1,779 people without dementia, and with neuroimaging (MRI) data, associations were investi...

journal_title：Neurology

authors： Stewart R,Dufouil C,Godin O,Ritchie K,Maillard P,Delcroix N,Crivello F,Mazoyer B,Tzourio C

更新日期：2008-04-29 00:00:00

abstract：:Fibromyalgia (FM) and transformed migraine (TM) are common chronic pain disorders. The authors estimated the prevalence of FM in 101 patients with TM, and analyzed its relationship to depression, anxiety, and insomnia. FM was diagnosed in 35.6% of cases. Patients with FM had more insomnia, were older, and had headache...

journal_title：Neurology

authors： Peres MF,Young WB,Kaup AO,Zukerman E,Silberstein SD

更新日期：2001-10-09 00:00:00

abstract：:The association between migraine and cervical artery dissection (CAD) was explored in a hospital-based case-control study. Migraine was present in 49.1% (23/47) of patients with CAD and in 21% (11/52) of patients hospitalized for a cerebral ischemic event not related to a CAD (adjusted odds ratio = 3.6; 1.5 to 8.6, p ...

journal_title：Neurology

authors： Tzourio C,Benslamia L,Guillon B,Aïdi S,Bertrand M,Berthet K,Bousser MG

更新日期：2002-08-13 00:00:00

abstract：:Thirty-one individuals awaiting trial or sentencing for murder or undergoing an appeal process requested a neurologic examination through legal counsel. We attempted in each instance to obtain EEG, MRI or CT, and neuropsychological testing. Neurologic examination revealed evidence of "frontal" dysfunction in 20 (64.5%...

journal_title：Neurology

authors： Blake PY,Pincus JH,Buckner C

更新日期：1995-09-01 00:00:00

abstract：:A 14-year-old boy survived for 7 years after the initial diagnosis and treatment of acute lymphocytic leukemia. Neurologic deterioration occured repeatedly throughout his complicated clinical course but it was most severe and only partially reversible following orally administered pyrimethamine. The neuropathologic le...

journal_title：Neurology

authors： Devivo DC,Malas D,Nelson JS,Land VJ

更新日期：1977-07-01 00:00:00

abstract：BACKGROUND:X-linked adrenoleukodystrophy (X-ALD) has variants with widely different outcomes, hampering clinical counseling and evaluation of therapies. OBJECTIVE:To evaluate the degree to which MRI patterns can predict lesion progression. METHODS:Two hundred six boys and men with cerebral X-ALD (median age 12.2 year...

journal_title：Neurology

authors： Loes DJ,Fatemi A,Melhem ER,Gupte N,Bezman L,Moser HW,Raymond GV

更新日期：2003-08-12 00:00:00

abstract：OBJECTIVE:It is known that muscle phosphorylase deficiency restricts carbohydrate utilization, but the implications for muscle fat metabolism have not been studied. We questioned whether patients with McArdle disease can compensate for the blocked muscle glycogen breakdown by enhancing fat oxidation during exercise. M...

journal_title：Neurology

authors： Ørngreen MC,Jeppesen TD,Andersen ST,Taivassalo T,Hauerslev S,Preisler N,Haller RG,van Hall G,Vissing J

更新日期：2009-02-24 00:00:00

abstract：BACKGROUND:Cross-sectional studies suggest gender differences in cognitive function and risk of AD in older persons. However, longitudinal studies comparing change in cognitive function and risk of AD in men and women have had mixed results. The authors investigated gender differences in rate of decline for different c...

journal_title：Neurology

authors： Barnes LL,Wilson RS,Schneider JA,Bienias JL,Evans DA,Bennett DA

更新日期：2003-06-10 00:00:00

abstract：:We made phenotypic analysis of 14 families with spinal muscular atrophy (SMA) linking to chromosome 5q11.2-13.3 (SMA 5q), and 2 that may not map to this locus, to assess clinical symptoms among SMA families known to result from mutation at the identical gene/locus. Although the current number of families is still smal...

journal_title：Neurology

authors： Munsat TL,Skerry L,Korf B,Pober B,Schapira Y,Gascon GG,al-Rajeh SM,Dubowitz V,Davies K,Brzustowicz LM

更新日期：1990-12-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to evaluate the association between spinal cord injury (SCI) and type 2 diabetes in a large representative sample and to determine whether an association exists irrespective of known risk factors for type 2 diabetes. METHODS:Data were obtained on 60,678 respondents to the Stat...

journal_title：Neurology

authors： Cragg JJ,Noonan VK,Dvorak M,Krassioukov A,Mancini GB,Borisoff JF

更新日期：2013-11-19 00:00:00

abstract：BACKGROUND:Using a stereologic approach, the density of nerve fibers innervating sweat gland (SG) fragments in patients with diabetes mellitus (DM) and healthy controls using protein gene product (PGP), tyrosine hydroxylase (TH), and vasoactive intestinal peptide (VIP) was measured to determine which marker best detect...

journal_title：Neurology

authors： Liu Y,Billiet J,Ebenezer GJ,Pan B,Hauer P,Wei J,Polydefkis M

更新日期：2015-04-21 00:00:00

abstract：OBJECTIVE:To investigate the causal relevance of current tobacco smoking for the risk of Parkinson disease (PD). METHODS:We compared the risks of death from PD with smoking habits in 30,000 male doctors in the British Doctors cohort study in 1951 and in survivors who had been resurveyed periodically for 5 decades. Cau...

journal_title：Neurology

authors： Mappin-Kasirer B,Pan H,Lewington S,Kizza J,Gray R,Clarke R,Peto R

更新日期：2020-05-19 00:00:00

abstract：OBJECTIVE:To explore an association with survival of modifying the current standard of care for patients with newly diagnosed glioblastoma of surgery followed by radiotherapy plus concurrent and 6 cycles of maintenance temozolomide chemotherapy (TMZ/RT → TMZ) by extending TMZ beyond 6 cycles. METHODS:The German Glioma...

journal_title：Neurology

authors： Gramatzki D,Kickingereder P,Hentschel B,Felsberg J,Herrlinger U,Schackert G,Tonn JC,Westphal M,Sabel M,Schlegel U,Wick W,Pietsch T,Reifenberger G,Loeffler M,Bendszus M,Weller M

更新日期：2017-04-11 00:00:00

abstract：BACKGROUND:Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder that manifests as recurrent, episodic, painful brachial neuropathies. A gene for HNA maps to chromosome 17q25.3 where mutations in SEPT9, encoding the septin-9 protein, have been identified. OBJECTIVE:To determine the frequency and type...

journal_title：Neurology

authors： Hannibal MC,Ruzzo EK,Miller LR,Betz B,Buchan JG,Knutzen DM,Barnett K,Landsverk ML,Brice A,LeGuern E,Bedford HM,Worrall BB,Lovitt S,Appel SH,Andermann E,Bird TD,Chance PF

更新日期：2009-05-19 00:00:00

abstract：OBJECTIVE:To investigate evidence of the potential role of early cortical vulnerability in the development of primary progressive aphasia (PPA). METHOD:A woman with a diagnosis of PPA and her 9 adult siblings, 7 with developmental language disabilities, underwent neuropsychological testing, structural MRI, and resting...

journal_title：Neurology

authors： Weintraub S,Rader B,Coventry C,Sridhar J,Wood J,Guillaume KA,Coppola G,Ramos EM,Bonakdarpour B,Rogalski EJ,Mesulam MM

更新日期：2020-08-18 00:00:00

abstract：:Hypnic headache has been described in several case reports since 1981 and is regarded as an idiopathic headache disorder. In this review of 71 cases in the literature, the clinical features, neurophysiologic including polysomnographic findings, and treatment procedures are analyzed and the pathophysiology of this cond...

journal_title：Neurology

authors： Evers S,Goadsby PJ

更新日期：2003-03-25 00:00:00

abstract：:A 47-year-old woman had myasthenia gravis with only moderate weakness and a consistently poor response to anticholinesterase medication. She was investigated with routine electrophysiologic studies and single-fiber electromyography. The studies showed a limited effect of anticholinesterase medication. There was a decr...

journal_title：Neurology

authors： Schwartz MS,Stålberg E

更新日期：1975-01-01 00:00:00

abstract：:Of 58 consecutive patients with spontaneous CSF leaks, nine exhibited features of connective tissue disorder. One had Marfan's syndrome. Five additional patients had hyperflexible joints, of whom four had arachnodactyly, four were tall and slender, two had hyperextensible skin, and one had a strong family history of a...

journal_title：Neurology

authors： Mokri B,Maher CO,Sencakova D

更新日期：2002-03-12 00:00:00

abstract：OBJECTIVE:To assess the frequency of this finding in patients with minor stroke and TIAs compared to those with stroke mimics and to evaluate the level of agreement between examiners to detect an upgoing thumb sign. METHODS:We previously reported an upgoing thumb sign as a subtle clinical finding in patients with tran...

journal_title：Neurology

authors： Hachinski V,Alsubaie R,Azarpazhooh MR

更新日期：2017-07-25 00:00:00