Impairment of callosal and corticospinal system function in adolescents with early-treated phenylketonuria: a transcranial magnetic stimulation study.

abstract：:Neuroinflammation (microglial activation) and subclinical nigrostriatal dysfunction have been reported in subjects at risk of Parkinsonism. Eight non-manifesting carriers (NMCs) of LRRK2 G2019S mutation had 11C-PK11195 and 18F-DOPA PET to assess microglial activation and striatal dopamine system integrity, respectivel...

journal_title：Journal of neurology

authors： Gersel Stokholm M,Garrido A,Tolosa E,Serradell M,Iranzo A,Østergaard K,Borghammer P,Møller A,Parbo P,Stær K,Brooks DJ,Martí MJ,Pavese N

更新日期：2020-08-01 00:00:00

abstract：:Although awareness of non-motor symptoms in Parkinson's disease (PD) has recently increased, little is known about their recognition and treatment in routine clinical practice. We therefore applied non-motor rating scales for dementia, depression, anxiety and excessive daytime sleepiness to a community-ascertained coh...

journal_title：Journal of neurology

authors： Hu M,Cooper J,Beamish R,Jones E,Butterworth R,Catterall L,Ben-Shlomo Y

更新日期：2011-08-01 00:00:00

abstract：:Parkinson's disease (PD) is the most common neurodegenerative movement disorder. Recent advances in genetics and pathophysiology have led to new insights into the pathogenesis of PD. Ten loci have been linked to hereditary PD. Mutations in alpha-synuclein and ubiquitin carboxy hydrolase L1 (UchL1) cause autosomal domi...

journal_title：Journal of neurology

authors： Chung KK,Dawson VL,Dawson TM

更新日期：2003-10-01 00:00:00

abstract：:Among 234 hemophiliacs, 14 patients (5.9%) with intracranial and 1 patient (0.4%) with intramedullary hemorrhage were observed and examined. The average age at the time of hemorrhage was 17 years in patients with severe hemophilia and 43 years in patients with moderate hemophilia. The patients with mild hemophilia and...

journal_title：Journal of neurology

authors： Mamoli B,Sonneck G,Lechner K

更新日期：1976-01-14 00:00:00

abstract：:Eighteen patients with dural arteriovenous fistulas or intradural arteriovenous malformations underwent clinical and neurophysiological examination. Bladder disturbances, pain, sensory abnormalities and involvement of both upper and lower motor neurons were commonly observed. Abnormal findings were obtained both in el...

journal_title：Journal of neurology

authors： Linden D,Berlit P

更新日期：1996-01-01 00:00:00

abstract：:Evidence of a significant improvement of IFNB-1b in clinical severity in the older population with RRMS has not been established so far. The aim of this exploratory post hoc analysis of the 250 mcg IFNB-1b group of the BEYOND study is to compare the efficacy and safety of older versus younger patients using a cut-off ...

journal_title：Journal of neurology

authors： Lampl C,Nagl S,Arnason B,Comi G,O Connor P,Cook S,Jeffery D,Kappos L,Filippi M,Beckmann K,Bogumil T,Pohl C,Sandbrink R,Hartung HP

更新日期：2013-07-01 00:00:00

abstract：:The aim of this study was to analyze the pattern of magnetic resonance diffusion-weighted imaging (DWI) findings in status epilepticus in terms of clinical characteristics. Participants comprised 106 patients with status epilepticus who were admitted to our hospital and underwent DWI. Forty-five patients (42.5 %) show...

journal_title：Journal of neurology

authors： Nakae Y,Kudo Y,Yamamoto R,Dobashi Y,Kawabata Y,Ikeda S,Yokoyama M,Higashiyama Y,Doi H,Johkura K,Tanaka F

更新日期：2016-01-01 00:00:00

abstract：:The course of multiple sclerosis (MS) can be monitored by measuring changes in brain volume, but consensus is still lacking on the best strategy to be adopted. We compared the reproducibility and sensitivity of volume measurements from different brain portions for detecting changes on magnetic resonance imaging (MRI) ...

journal_title：Journal of neurology

authors： Rovaris M,Inglese M,van Schijndel RA,Sormani MP,Rodegher M,Comi G,Filippi M

更新日期：2000-12-01 00:00:00

abstract：:Mutations in C19orf12 have been recently identified as the molecular genetic cause of a subtype of neurodegeneration with brain iron accumulation (NBIA). Given the mitochondrial localization of the gene product the new NBIA subtype was designated mitochondrial membrane protein-associated neurodegeneration. Frequent fe...

journal_title：Journal of neurology

authors： Deschauer M,Gaul C,Behrmann C,Prokisch H,Zierz S,Haack TB

更新日期：2012-11-01 00:00:00

abstract：:In 12 ambulant patients with a clinical diagnosis of probable Alzheimer's disease, a 12-week, double-blind, placebo-controlled study with 100 mg/day tetrahydroaminoacridine (THA) and 10 g/day lecithin is reported. The aim of the study was to find whether treatment would result in an improvement of cognition, of functi...

journal_title：Journal of neurology

authors： Weinstein HC,Teunisse S,van Gool WA

更新日期：1991-02-01 00:00:00

abstract：:In Huntington's disease (HD) atrophy of the caudate nucleus and putamen has been described many years before clinical manifestation. Volume changes of the pallidum, thalamus, brainstem, accumbens nucleus, hippocampus, and amygdala are less well investigated, or reported with contradicting results. The aim of our study...

journal_title：Journal of neurology

authors： van den Bogaard SJ,Dumas EM,Acharya TP,Johnson H,Langbehn DR,Scahill RI,Tabrizi SJ,van Buchem MA,van der Grond J,Roos RA,TRACK-HD Investigator Group.

更新日期：2011-03-01 00:00:00

abstract：:Motor neuron disease (MND) is a group of disorders in which there is degeneration of upper and lower motor neurons to a variable degree. Amyotrophic lateral sclerosis is the most frequent form of the disease, presenting with both upper and lower motor neuron involvement. Frequently, especially in the early stages of t...

journal_title：Journal of neurology

authors： Bouche P,Le Forestier N,Maisonobe T,Fournier E,Willer JC

更新日期：1999-07-01 00:00:00

abstract：INTRODUCTION:Duchenne muscular dystrophy (DMD) is induced by a wide spectrum of mutations such as exon deletions, duplications and small mutations in the dystrophin gene. This is the first study on the mutational spectrum in a cohort of DMD children from India, with an emphasis to compare the mutations in familial and ...

journal_title：Journal of neurology

authors： Polavarapu K,Preethish-Kumar V,Sekar D,Vengalil S,Nashi S,Mahajan NP,Thomas PT,Sadasivan A,Warrier M,Gupta A,Arunachal G,Debnath M,Keerthipriya MS,Pradeep-Chandra-Reddy C,Puttegowda A,John AP,Tavvala A,Gunasekaran S,S

更新日期：2019-09-01 00:00:00

abstract：:Cerebral atrophy calculated from serial MRI is a marker of Alzheimer's disease (AD) progression, and a potential outcome measure for therapeutic trials. Reducing within-subject variability in cerebral atrophy rates by acquiring more than two serial scans could allow for shorter clinical trials requiring smaller patien...

journal_title：Journal of neurology

authors： Schott JM,Frost C,Whitwell JL,Macmanus DG,Boyes RG,Rossor MN,Fox NC

更新日期：2006-09-01 00:00:00

abstract：BACKGROUND:More research is needed to understand the contribution of comorbidities to MS symptomatology. OBJECTIVES:To examine the dose-response relationship between the number of comorbidities and severity of MS symptoms and to assess the relative contribution of comorbidity groups and individual comorbidities to the...

journal_title：Journal of neurology

authors： Lo LMP,Taylor BV,Winzenberg T,Palmer AJ,Blizzard L,van der Mei I

更新日期：2020-09-02 00:00:00

abstract：:Thirteen patients with subacute sclerosing panencephalitis (S.S.P.E.) at different stages of the disease were admitted for transfer factor treatment. The transfer factor was prepared from non-selected blood bank donors. The activity of the transfer factor was tested in patients with diseases other than S.S.P.E. and wa...

journal_title：Journal of neurology

authors： Käckell YM,Grob PJ,Kreth WH,Kibler R,Meulen V

更新日期：1975-12-02 00:00:00

abstract：:We recently reported findings that loss of cortical acetylcholinesterase (AChE) activity is greater in parkinsonian dementia than in Alzheimer's disease (AD). In this study we determined cognitive correlates of in vivo cortical AChE activity in patients with parkinsonian dementia (PDem, n = 11), Parkinson's disease wi...

journal_title：Journal of neurology

authors： Bohnen NI,Kaufer DI,Hendrickson R,Ivanco LS,Lopresti BJ,Constantine GM,Mathis ChA,Davis JG,Moore RY,Dekosky ST

更新日期：2006-02-01 00:00:00

abstract：:Eye movements were studied in 13 patients with Friedreich's ataxia and correlated with MRI findings to investigate whether oculomotor abnormalities can be traced to cerebellar disturbances in this disease. One of the most prominent eye signs was fixation instability (square-wave jerks, SWJ.). Besides SWJ the patients ...

journal_title：Journal of neurology

authors： Spieker S,Schulz JB,Petersen D,Fetter M,Klockgether T,Dichgans J

更新日期：1995-08-01 00:00:00

abstract：:Rapid-eye-movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by complex motor activity associated with dreaming during REM sleep. RBD may be idiopathic or associated with various neurological diseases involving the brainstem. The association of RBD and limbic system impairment was unclear. We r...

journal_title：Journal of neurology

authors： Lin FC,Liu CK,Hsu CY

更新日期：2009-07-01 00:00:00

abstract：:Multiple sclerosis (MS), a chronic inflammatory disorder of the central nervous system (CNS), 2 results in damage to axons and their surrounding myelin sheath. The exact cause of inflammation remains unclear, but an autoimmune response directed against CNS antigens is suspected. MS can affect the brain, optic nerve an...

journal_title：Journal of neurology

authors： Hartung HP,Bar-Or A,Zoukos Y

更新日期：2004-09-01 00:00:00

abstract：:Stroke in young adults is not a rare entity, and often provides difficult management decisions for neurologists. The knowledge gained from stroke in older adults does not transfer easily to this younger group given the different causes of stroke observed. Cardiac causes of stroke are common in this group, but often co...

journal_title：Journal of neurology

authors： Cotter PE,Belham M,Martin PJ

更新日期：2010-11-01 00:00:00

abstract：:Autoradiographic investigations with 3H-thymidine were performed on cerebrospinal fluid (CSF) cells from a case of meningeal carcinomatosis following carcinoma of the breast. The cells were found to be anaplastic histologically. Within a period of 12 days 3 X 25 mg methotrexate were injected into the subarachnoid spac...

journal_title：Journal of neurology

authors： Engelhardt P

更新日期：1976-10-04 00:00:00

abstract：OBJECTIVE:The variability of the severity and regional distribution of pathological process in basal ganglia (BG) and brainstem-cerebellar systems results in clinical heterogeneity and represents the motor subtype of multiple system atrophy (MSA). This study aimed to quantify spatial patterns of multimodal MRI abnormal...

journal_title：Journal of neurology

authors： Lee MJ,Kim TH,Mun CW,Shin HK,Son J,Lee JH

更新日期：2018-07-01 00:00:00

abstract：BACKGROUND AND AIMS:Most patients with multiple sclerosis presenting with a relapsing-remitting disease course at diagnosis transition to secondary progressive multiple sclerosis (SPMS) 1-2 decades after onset. SPMS is characterized by predominant neurodegeneration and atrophy. These pathogenic hallmarks result in unsa...

journal_title：Journal of neurology

authors： Ferrazzano G,Crisafulli SG,Baione V,Tartaglia M,Cortese A,Frontoni M,Altieri M,Pauri F,Millefiorini E,Conte A

更新日期：2020-06-05 00:00:00

abstract：:Recognition of multiple sclerosis (MS) attacks relies mostly on clinical assessment. However, their definition based on McDonald criteria refers mostly to timing and when dealing with clinical features is rather ambiguous: "...of the kind seen in multiple sclerosis." This is heightened in clinically isolated syndromes...

journal_title：Journal of neurology

authors： Sastre-Garriga J,Tintoré M,Nos C,Tur C,Río J,Téllez N,Castilló J,Horga A,Perkal H,Comabella M,Rovira A,Montalban X

更新日期：2010-05-01 00:00:00

abstract：BACKGROUND:The aim of study was to demonstrate that the first three injections of botulinum neurotoxin type A (BoNT/A) appear to be less effective in botulinum toxin naïve patients with idiopathic cervical dystonia (CD) with mild symptoms and low severity scores (TSUI-scores) at onset of BoNT/A-therapy compared to pati...

journal_title：Journal of neurology

authors： Hefter H,Samadzazeh S,Rosenthal D

更新日期：2021-01-01 00:00:00

abstract：:Parkinson's disease (PD) is preceded by a premotor phase of unknown duration. Dopaminergic degeneration during this phase may lead to subtle cognitive and behavioural changes, such as decreased novelty seeking. Consequently, premotor subjects might be most comfortable in jobs that do not require optimal dopamine level...

journal_title：Journal of neurology

authors： Haaxma CA,Borm GF,van der Linden D,Kappelle AC,Bloem BR

更新日期：2015-09-01 00:00:00

abstract：:Frequent serial EEG investigations of three patients with neuropathologically confirmed Creutzfeldt-Jakob disease lasting 13, 24 and 68 weeks revealed typical periodic activity of short duration with stereotyped bilateral sharp waves at the 7th, 8th, and 12th week, respectively, after the onset of symptoms. During the...

journal_title：Journal of neurology

authors： Schlenska GK,Walter GF

更新日期：1989-12-01 00:00:00

abstract：:To disclose the neuropathological progression course of Machado-Joseph disease (MJD), magnetic resonance imaging (MRI) findings of six genetically confirmed MJD cases (four males and two females, including an autopsied female, all unrelated to one another) were further investigated on neurodegeneration. Brain MRI stud...

journal_title：Journal of neurology

authors： Horimoto Y,Matsumoto M,Akatsu H,Kojima A,Yoshida M,Nokura K,Yuasa H,Katada E,Yamamoto T,Kosaka K,Hashizume Y,Yamamoto H,Mitake S

更新日期：2011-09-01 00:00:00

abstract：:Cerebral venous thrombosis (CVT) affects mainly working-aged individuals. Functional recovery after CVT is generally considered good with about 3/4 of patients achieving short-term independence. However, vascular events, long-term functional outcome, and employment after CVT remain poorly investigated. We identified c...

journal_title：Journal of neurology

authors： Hiltunen S,Putaala J,Haapaniemi E,Tatlisumak T

更新日期：2016-03-01 00:00:00