Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.

abstract：:Gait variability has potential utility as a predictive measure of dysfunction in Parkinson's disease (PD). Current understanding implicates non-dopaminergic pathways. This study investigated the explanatory characteristics of gait variability in PD on and off medication under single and dual task conditions. Fifty peo...

journal_title：Journal of neurology

authors： Lord S,Baker K,Nieuwboer A,Burn D,Rochester L

更新日期：2011-04-01 00:00:00

abstract：:We explored how changes in visual attention impacted postural motor performance in healthy elders and adults post-stroke within a virtual reality environment, including when vestibular information was not perceptible. Visual dependence in 13 healthy (50-80 years) and 13 adults post-stroke (49-70 years) was assessed wi...

journal_title：Journal of neurology

authors： Slaboda JC,Keshner EA

更新日期：2012-12-01 00:00:00

abstract：:Eighty patients were studied by angiography within 6 h of an ischaemic stroke. Angiography was carried out with digital equipment and was usually limited to the vascular territory responsible for the neurological deficits. In 12 of 19 patients with internal carotid occlusion, the contralateral side was also studied. T...

journal_title：Journal of neurology

authors： Bozzao L,Fantozzi LM,Bastianello S,Bozzao A,Argentino C,Lenzi GL,Fieschi C

更新日期：1989-09-01 00:00:00

abstract：:A girl with rapid-onset, bulbospinal muscular atrophy and deafness is described. The patient's mother and brother showed EMG features consistent with subclinical involvement. T is bulbospinal form of spinal muscular atrophy associated with deafness described by Vialetto and van Laere closely resembles the Madras type ...

journal_title：Journal of neurology

authors： Summers BA,Swash M,Schwartz MS,Ingram DA

更新日期：1987-08-01 00:00:00

abstract：AIMS:To investigate the occurrence of symptomatic peroneal neuropathy (PN) in cancer patients, as well as that of cancer in PN patients and to seek possible factors in the aetiology of PN. METHODS:Clinical, neurographical, and myographical data of patients with PN, in two general neurology clinics during a 5-year peri...

journal_title：Journal of neurology

authors： Koehler PJ,Buscher M,Rozeman CA,Leffers P,Twijnstra A

更新日期：1997-05-01 00:00:00

abstract：OBJECTIVE:Amyotrophic lateral sclerosis type 8 (ALS8) is a familial form of motor neuron disease, with predominance of lower motor neuron degeneration, and is caused by mutation of the vesicle-associated membrane protein-associated protein B (VAPB). We aimed to compare the cognitive profile of patients with ALS8 and he...

journal_title：Journal of neurology

authors： de Alcântara C,Cruzeiro MM,França MC Jr,Camargos ST,de Souza LC

更新日期：2019-08-01 00:00:00

abstract：:Acute porphyrias are a group of inherited metabolic disorders representing overproduction syndromes with the formation of neurotoxic haem precursors. Clinical manifestations consist of acute attacks, which include abdominal pain, dysautonomia, mental symptoms, polyneuropathy and seizures mimicking many other acute neu...

journal_title：Journal of neurology

authors： Pischik E,Kazakov V,Kauppinen R

更新日期：2008-07-01 00:00:00

abstract：:Current findings suggest that multipotent stem cells may be suitable for cell replacement therapies in the treatment of neurodegenerative disorders. Embryonic stem (ES) cells are pluripotent cells isolated from the inner cell mass of the preimplantation blastocyst, which give rise to all cells in the organism. Similar...

journal_title：Journal of neurology

authors： Gerlach M,Braak H,Hartmann A,Jost WH,Odin P,Priller J,Schwarz J

更新日期：2002-10-01 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：:Leukocyte recruitment and inflammatory response play an important patho-physiologic role after cerebral ischemia. This study aimed to evaluate whether leukocyte adhesion molecules can predict clinical outcome in patients after ischemic stroke. We prospectively examined serial changes in p-selectin glycoprotein ligand-...

journal_title：Journal of neurology

authors： Tsai NW,Chang WN,Shaw CF,Jan CR,Huang CR,Chen SD,Chuang YC,Lee LH,Lu CH

更新日期：2009-08-01 00:00:00

abstract：BACKGROUND:Anti-epileptic drug (AED) prophylaxis in the first-seven days post-traumatic brain injury (TBI) is known to reduce seizure frequency acutely. AED efficacy is equivalent; therefore, choice of AED may rest with their side-effects. We hypothesise that AEDs that impair balance will prolong recovery, shown by a l...

journal_title：Journal of neurology

authors： Harris L,Hateley S,Tsang KT,Wilson M,Seemungal BM

更新日期：2020-06-01 00:00:00

abstract：OBJECTIVE:Spinal and bulbar muscular atrophy (SBMA) is caused by an abnormal expansion of the CAG repeat in the androgen receptor gene. This study aimed to systematically phenotype a German SBMA cohort (n = 80) based on laboratory markers for neuromuscular, metabolic, and endocrine status, and thus provide a basis for ...

journal_title：Journal of neurology

authors： Rosenbohm A,Hirsch S,Volk AE,Grehl T,Grosskreutz J,Hanisch F,Herrmann A,Kollewe K,Kress W,Meyer T,Petri S,Prudlo J,Wessig C,Müller HP,Dreyhaupt J,Weishaupt J,Kubisch C,Kassubek J,Weydt P,Ludolph AC

更新日期：2018-05-01 00:00:00

abstract：:Neuromyelitis optica (NMO) is an inflammatory/demyelinating disorder predominantly affecting the optic nerves and spinal cord. Recent findings showed an underlying humoral abnormality in NMO, characterized by a serum antibody against aquaporin-4 (Aqp-4-Ab). In this study, we evaluated the Aqp-4-Ab status among Turkish...

journal_title：Journal of neurology

authors： Akman-Demir G,Tüzün E,Waters P,Içöz S,Kürtüncü M,Jarius S,Yapıcı Z,Mutlu M,Yeşilot N,Vincent A,Eraksoy M

更新日期：2011-03-01 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：OBJECTIVES:To estimate the socio-economic impact of multiple sclerosis (MS) in Italy. METHODS:Outpatients with MS were enrolled at 44 centres across Italy. Socio-demographic, clinical and resource utilization data were collected using a validated questionnaire. Each patient completed a weekly diary of expenses due to ...

journal_title：Journal of neurology

authors： Amato MP,Battaglia MA,Caputo D,Fattore G,Gerzeli S,Pitaro M,Reggio A,Trojano M,Mu. S. I. C. Study Group.

更新日期：2002-02-01 00:00:00

abstract：BACKGROUND:Trans-active response DNA-binding protein of 43 kDa (TDP-43) can be detected in up to 63% of autopsy-confirmed Lewy body disease (LBD) cases. It is unclear whether TDP-43 is associated with a decreased likelihood of a clinical diagnosis of probable dementia with Lewy bodies (pDLB) during life. METHODS:In an...

journal_title：Journal of neurology

authors： Buciuc M,Whitwell JL,Boeve BF,Ferman TJ,Graff-Radford J,Savica R,Kantarci K,Fields JA,Knopman DS,Petersen RC,Parisi JE,Murray ME,Dickson DW,Josephs KA

更新日期：2020-05-01 00:00:00

abstract：:The clinical features of 31 cases of syringomyelic syndrome, confirmed by metrizamide CT myelography (CTM) or magnetic resonance imaging (MRI), were analysed. Bilateral suspended sensory disturbance, previously regarded as a characteristic feature, was encountered in only 2 cases (6.5%). Thirteen patients (41.9%) show...

journal_title：Journal of neurology

authors： Tashiro K,Fukazawa T,Moriwaka F,Hamada T,Isu T,Iwasaki Y,Abe H

更新日期：1987-10-01 00:00:00

abstract：:Rituximab, a monoclonal antibody to CD20, is an effective treatment for relapsing remitting multiple sclerosis (MS) reducing relapse rate by at least 50% over time. Although the mechanism for this clinical benefit is unclear, rituximab depletes circulating B cells, which can perform antigen presentation and stimulatio...

journal_title：Journal of neurology

authors： Baber U,Bouley A,Egnor E,Sloane JA

更新日期：2018-10-01 00:00:00

abstract：:We reviewed the records of all patients who had received an epidural catheter for management of chronic cancer pain in a 3-year period (1993-1996). Patients with nervous system infections were identified, and pertinent clinical, radiological (magnetic resonance imaging), and bacteriological data were analyzed. We iden...

journal_title：Journal of neurology

authors： Sillevis Smitt P,Tsafka A,van den Bent M,de Bruin H,Hendriks W,Vecht C,Teng-van de Zande F

更新日期：1999-09-01 00:00:00

abstract：:Levodopa treatment does improve Parkinson's disease (PD) dysgraphia, but previous research is not in agreement about which aspects are most responsive. This study investigated the effect of levodopa on the kinematics of writing. Twenty-four patients with PD of less than 10 years duration and 25 age-matched controls we...

journal_title：Journal of neurology

authors： Zham P,Kumar D,Viswanthan R,Wong K,Nagao KJ,Arjunan SP,Raghav S,Kempster P

更新日期：2019-06-01 00:00:00

abstract：:Two previously healthy women are described who in their late thirties suffered transient strokelike episodes, consisting of initial headache and vomiting, with various subsequent neurological signs that were only partially reversible. Investigations revealed elevated serum creatine kinase, lactic acidosis, hypertrigly...

journal_title：Journal of neurology

authors： Kremer HP,Keyser A,Wintzen AR,Scholte HR,van Hellenberg Hubar JG,Poorthuis BJ,Ruitenbeek W

更新日期：1993-01-01 00:00:00

abstract：:The goal of this study is to define the clinical features, pathogenesis and key investigation findings of fasciculation anxiety syndrome in clinicians (FASICS). Twenty consecutive clinicians presenting with fasciculations were prospectively assessed with serial clinical and neurophysiological evaluations. Clinicians w...

journal_title：Journal of neurology

authors： Simon NG,Kiernan MC

更新日期：2013-07-01 00:00:00

abstract：:Post-concussion symptoms (PCS) (such as headaches, irritability, anxiety, dizziness, fatigue and impaired concentration) are frequently experienced by patients who have sustained a minor head injury (MHI). The post-concussion syndrome has been defined as a clinical state where 3 or more symptoms persist for more than ...

journal_title：Journal of neurology

authors： Ingebrigtsen T,Waterloo K,Marup-Jensen S,Attner E,Romner B

更新日期：1998-09-01 00:00:00

abstract：INTRODUCTION:PCT is used in the diagnosis of acute neurological syndromes, particularly stroke. We aimed to evaluate PCT abnormalities in patients with acute epileptic seizures or status epilepticus (SE). METHODS:We collected patients undergoing acute PCT for the suspicion of acute ischemic stroke (AIS), who received ...

journal_title：Journal of neurology

authors： Strambo D,Rey V,Rossetti AO,Maeder P,Dunet V,Browaeys P,Michel P

更新日期：2018-12-01 00:00:00

abstract：:Demyelination in multiple sclerosis (MS) may cause damage to the vegetative nervous system. Our objective was to examine cerebral autoregulation assessed via blood pressure and cerebral blood flow velocity fluctuations during head-up tilt table testing. We also investigated the effects of high-dose intravenous cortico...

journal_title：Journal of neurology

authors： Mezei Z,Olah L,Kardos L,Kovacs RK,Csiba L,Csepany T

更新日期：2013-09-01 00:00:00

abstract：:Seventy-seven cases of the optic-spinal form of multiple sclerosis (OSMS) were collected from 6 institutes in 3 cities of Japan, and the clinical and MRI features were analyzed. Two-thirds of the OSMS patients had longitudinally extensive spinal cord MRI lesions (LESL), and had clinical features similar to those of re...

journal_title：Journal of neurology

authors： Nakashima I,Fukazawa T,Ota K,Nohara C,Warabi Y,Ohashi T,Miyazawa I,Fujihara K,Itoyama Y

更新日期：2007-04-01 00:00:00

abstract：:Freezing of gait (FOG) in Parkinson's disease (PD) likely results from dysfunction within a complex neural gait circuitry involving multiple brain regions. Herein, cerebellar activity is increased in patients compared to healthy subjects. This cerebellar involvement has been proposed to be compensatory. We hypothesize...

journal_title：Journal of neurology

authors： Janssen AM,Munneke MAM,Nonnekes J,van der Kraan T,Nieuwboer A,Toni I,Snijders AH,Bloem BR,Stegeman DF

更新日期：2017-05-01 00:00:00

abstract：:A general scheme of analysis for the investigation of minute calcification is presented. After low temperature ashing, the samples are subjected to chemical, structural and morphological study, using atomic absorption spectrometry, infrared spectrometry, X-ray diffraction and scanning electron microscopy. Details abou...

journal_title：Journal of neurology

authors： Michotte Y,Lowenthal A,Knaepen L,Collard M,Massart DL

更新日期：1977-06-13 00:00:00

abstract：:Cardiac conduction and/or rhythm abnormalities (CCRA) are the most frequent and life-threatening complications in DM1. In order to determine prevalence, incidence, characteristics, age of onset and predictors of CCRA, CCRA progression and sudden cardiac death (SCD) in DM1, we collected ECG/24hECG-Holter data from a ye...

journal_title：Journal of neurology

authors： Bucci E,Testa M,Licchelli L,Frattari A,El Halabieh NA,Gabriele E,Pignatelli G,De Santis T,Fionda L,Vanoli F,Morino S,Garibaldi M,Di Pasquale A,Vanacore N,Botta A,Antonini G

更新日期：2018-04-01 00:00:00

abstract：:Vertigo is frequently associated with migraine, and sometimes it is the cardinal symptom. This type of migraine is called "vestibular migraine", "migrainous vertigo", or "migraine-associated vertigo". Earlier findings on effective prophylactic medication for such migraine attacks and their clinical features are few an...

journal_title：Journal of neurology

authors： Baier B,Winkenwerder E,Dieterich M

更新日期：2009-03-01 00:00:00