Recent advances in Parkinson’s disease genetics.

abstract：BACKGROUND:One of the goals in treating subarachnoid hemorrhage patients is to prevent or minimize vasospasm-induced ischemia. Intracerebral microdialysis is a rapidly developing tool to monitor physiological and pathophysiological changes in chemical processes associated with ischemia. OBJECTIVE:To determine the diag...

journal_title：Journal of neurology

authors： Peerdeman SM,van Tulder MW,Vandertop WP

更新日期：2003-07-01 00:00:00

abstract：BACKGROUND:Cerebral venous thrombosis (CVT) is associated with intracranial hemorrhage. AIM:To identify clinical and imaging features of CVT-associated intracranial hemorrhage. We hypothesized that higher clot burden would be associated with a higher risk of intracranial hemorrhage. METHODS:We performed a retrospecti...

journal_title：Journal of neurology

authors： Afifi K,Bellanger G,Buyck PJ,Zuurbier SM,Esperon CG,Barboza MA,Costa P,Escudero I,Renard D,Lemmens R,Hinteregger N,Fazekas F,Conde JJ,Giralt-Steinhauer E,Hiltunen S,Arauz A,Pezzini A,Montaner J,Putaala J,Weimar C,

更新日期：2020-11-01 00:00:00

abstract：:In paralytic shellfish poisoning a mollusc contaminated with a toxin (saxitoxin) causes a potentially lethal disease, clinically characterised by gastrointestinal and neurological symptoms, of which possible respiratory depression is the most serious. The toxin acts by blocking the sodium channels. We report 9 Portugu...

journal_title：Journal of neurology

authors： de Carvalho M,Jacinto J,Ramos N,de Oliveira V,Pinho e Melo T,de Sá J

更新日期：1998-08-01 00:00:00

abstract：:The three main immunoglobulin classes obey the basic principles of passive protein transfer at the blood-CSF barrier and the serum-derived portions could therefore be quantified with the help of the permeability marker albumin. The Ig fractions secreted into the CSF by sessile plasma cell clones have been determined i...

journal_title：Journal of neurology

authors： Felgenhauer K

更新日期：1982-01-01 00:00:00

abstract：:Botulinum neurotoxin (BoNT) is an effective treatment for cervical dystonia (CD). Long-term changes of several variables, including the dose of BoNT, in these patients is largely unknown. We reviewed the clinical charts of 275 patients with CD treated with BoNT type A (BoNT-A) for at least 5 years since 1989 at ten te...

journal_title：Journal of neurology

authors： Ruiz PJ,Castrillo JC,Burguera JA,Campos V,Castro A,Cancho E,Chacón J,Vara JH,del Val JL,Garcia EL,Miquel F,Sanz P,Vela L

更新日期：2011-06-01 00:00:00

abstract：:Prolonged clinico-immunological observation of 85 patients with definite multiple sclerosis (MS) was performed in order to elucidate the connections between the clinical and immune state. A battery of immunological investigations was performed, including estimation of T-cell subpopulations in blood and cerebrospinal f...

journal_title：Journal of neurology

authors： Gusev EI,Demina TL,Boiko AN,Pinegin BV

更新日期：1994-07-01 00:00:00

abstract：OBJECTIVE:Five different calliper methods for assessing the degree of carotid artery stenosis and visual estimation ("eyeballing") of postmortem carotid arteriograms were compared with the planimetric gold standard of the area reduction at the site of the stenosis. METHODS:During autopsy 53 carotid specimens were remo...

journal_title：Journal of neurology

authors： Schulte-Altedorneburg G,Droste DW,Kollár J,Beyna T,Felszeghy S,Módis L,Hegedüs C,Ringelstein EB,Csiba L

更新日期：2005-05-01 00:00:00

abstract：:Natalizumab (NAT) is an effective therapy for relapsing-remitting multiple sclerosis (MS), but is associated with an increased risk of progressive multifocal leucoencephalopathy after 2 years therapy. Thus, NAT treated patients often decide to stop NAT therapy after 2 years. Reports on recurrence of disease activity a...

journal_title：Journal of neurology

authors： Havla J,Gerdes LA,Meinl I,Krumbholz M,Faber H,Weber F,Pellkofer HL,Hohlfeld R,Kümpfel T

更新日期：2011-09-01 00:00:00

abstract：:Fatigue is a common symptom of multiple sclerosis (MS) even in the early phases of the disease, when neurological disability is usually still not present. To investigate the pathophysiology of fatigue we compared neurophysiological (motor evoked potentials of the four limbs, MEPs) and brain magnetic resonance imaging ...

journal_title：Journal of neurology

authors： Colombo B,Martinelli Boneschi F,Rossi P,Rovaris M,Maderna L,Filippi M,Comi G

更新日期：2000-07-01 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：:Somatostatin levels were measured in cerebrospinal fluid of patients with Alzheimer's disease, multi-infarct dementia and normal pressure hydrocephalus and compared with levels from a normal control group. All pathological groups showed a statistically significant decrease of somatostatin with respect to the control g...

journal_title：Journal of neurology

authors： Molins A,Catalán R,Sahuquillo J,Castellanos JM,Codina A,Galard R

更新日期：1991-06-01 00:00:00

abstract：:The age-related structural changes of the human hippocampus are not entirely understood. The goal of the present investigation was to understand better the nature of age-related hippocampal changes by a comparative MR-analysis of four complementary aspects of hippocampal integrity: total volume, metabolite concentrati...

journal_title：Journal of neurology

authors： Szentkuti A,Guderian S,Schiltz K,Kaufmann J,Münte TF,Heinze HJ,Düzel E

更新日期：2004-11-01 00:00:00

abstract：:Botulinum toxin (BT) therapy is an established treatment of spasticity due to stroke. For multiple sclerosis (MS) spasticity this is not the case. IAB-Interdisciplinary Working Group for Movement Disorders formed a task force to explore the use of BT therapy for treatment of MS spasticity. A formalised PubMed literatu...

journal_title：Journal of neurology

authors： Dressler D,Bhidayasiri R,Bohlega S,Chahidi A,Chung TM,Ebke M,Jacinto LJ,Kaji R,Koçer S,Kanovsky P,Micheli F,Orlova O,Paus S,Pirtosek Z,Relja M,Rosales RL,Sagástegui-Rodríguez JA,Schoenle PW,Shahidi GA,Timerbaeva S,

更新日期：2017-01-01 00:00:00

abstract：:Small fibre neuropathy (SFN) has been demonstrated in sarcoidosis. However, a systematic analysis of neuropathic pain and autonomic symptoms, key features of SFN, has not been performed. Clinimetric evaluation of pain and autonomic symptoms using the neuropathic pain scale (NPS) and the modified Composite Autonomic Sy...

journal_title：Journal of neurology

authors： Bakkers M,Faber CG,Drent M,Hermans MC,van Nes SI,Lauria G,De Baets M,Merkies IS

更新日期：2010-12-01 00:00:00

abstract：:We report a very rare case of Schwartz-Jampel syndrome associated with von Willebrand's disease. This association might be coincidental because of the different modes of inheritance of the two disorders. However, we speculate that there might be some link between the two disorders, for example in the locus of the affe...

journal_title：Journal of neurology

authors： Kuriyama M,Shinmyozu K,Osame M,Kawahira M,Igata A

更新日期：1985-01-01 00:00:00

abstract：:The mechanism underlying the motor fluctuations that develop after long-term L-dopa therapy is not fully known. It has been speculated that malabsorption of L-dopa from the small intestine occurs. It was reported that gastric retention in Parkinson's disease (PD) patients with motor fluctuations is increased as compar...

journal_title：Journal of neurology

authors： Tanaka Y,Kato T,Nishida H,Araki H,Murase M,Nagaki M,Moriwaki H,Inuzuka T

更新日期：2009-12-01 00:00:00

abstract：:The effect of local cooling was studied in 28 patients with myastenia gravis. We stimulated the ulnar nerve with single stimuli and trains at 3/s for 2s and at 50/s for 1.5 s. The compound muscle action potential (MAP), the muscle twitch and the isometric tetanic force of the adductor pollicis were registered. 1. At 3...

journal_title：Journal of neurology

authors： Ricker K,Hertel G,Stodieck S

更新日期：1977-11-01 00:00:00

abstract：BACKGROUND:Gastrointestinal (GI) dysfunction is prevalent in Parkinson's disease (PD). Symptoms are evident throughout the disease course, affect the length of the GI tract and impact on patient quality of life and management. We clarify real-life differences in the frequency and severity of GI symptoms in a cohort of ...

journal_title：Journal of neurology

authors： Lubomski M,Davis RL,Sue CM

更新日期：2020-05-01 00:00:00

abstract：:Several reports in the literature describe the effects of low-dose (5 mg/kg/day) idebenone in significantly reducing cardiac hypertrophy in patients with Friedreich ataxia. However, the effects of idebenone on neurological function have not been reliably determined in these studies; when neurological parameters were r...

journal_title：Journal of neurology

authors： Schulz JB,Di Prospero NA,Fischbeck K

更新日期：2009-03-01 00:00:00

abstract：:Homozygous mutations in the PINK1 gene have been shown to cause early-onset parkinsonism. Here, we describe a novel homozygous mutation (Q126P), identified in two affected German sisters with a clinical phenotype typical for PINK1-associated parkinsonism. We analysed lactate, pyruvate, carnitine and acylcarnitine bloo...

journal_title：Journal of neurology

authors： Prestel J,Gempel K,Hauser TK,Schweitzer K,Prokisch H,Ahting U,Freudenstein D,Bueltmann E,Naegele T,Berg D,Klopstock T,Gasser T

更新日期：2008-05-01 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：BACKGROUND:Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the survival motor neuron (SMN)1 gene. The nearly identical SMN2 gene plays a disease modifying role. SMA is classified into four different subtypes based on age of onset and clinical course (SMA types 1-4). The natural history of early onse...

journal_title：Journal of neurology

authors： Piepers S,van den Berg LH,Brugman F,Scheffer H,Ruiterkamp-Versteeg M,van Engelen BG,Faber CG,de Visser M,van der Pol WL,Wokke JH

更新日期：2008-09-01 00:00:00

abstract：:We investigated the muscle strength and motor unit (MU) territory of five patients with postpolio syndrome (PPS), six stable patients with prior poliomyelitis, and five healthy volunteers. The MU territory was assessed by measuring amplitudes of motor unit potentials (MUPs) recorded by the macro EMG technique. The inv...

journal_title：Journal of neurology

authors： Ivanyi B,Ongerboer de Visser BW,Nelemans PJ,de Visser M

更新日期：1994-12-01 00:00:00

abstract：:Electrophysiological findings in 40 cases of non-progressive myopathies are reported, and compared with a group of 20 cases of Duchenne progressive muscular dystrophy and a control group. In all cases the electrophysiological changes were of the mild s. c. myogenic type. The involvement of proximal and distal muscles ...

journal_title：Journal of neurology

authors： Hausmanowa-Petrusewicz I,Ryniewicz B

更新日期：1976-02-13 00:00:00

abstract：:Additional autoimmune diseases in people with multiple sclerosis (MS) and their relatives have been studied many times. Studies have employed different designs, and yielded conflicting results. We performed a systematic review, and calculated overall risk of additional autoimmune diseases in people with MS and their f...

journal_title：Journal of neurology

authors： Dobson R,Giovannoni G

更新日期：2013-05-01 00:00:00

abstract：:A case of primary autonomic failure (AF) with uncomplicated Parkinson's disease is presented with clinical and neurophysiological data. Special emphasis is placed on new methods of examining impairment of unmyelinated sympathetic and afferent C-fibres. Sympathetic vasoconstrictor responses in the skin induced by deep ...

journal_title：Journal of neurology

authors： Baron R,Feldmann R,Lindner V

更新日期：1993-12-01 00:00:00

abstract：:Six patients with congenital myotonia and 4 patients with myotonic dystrophy have been examined clinically before and after the administration of N-propyl-ajmalin, an alkaloid frequently used as a cardiac antiarrhythmic drug. All patients but one reported a good to moderate improvement of their myotonic muscle stiffne...

journal_title：Journal of neurology

authors： Birnberger KL,Rüdel R,Struppler A

更新日期：1975-09-01 00:00:00

abstract：:Fatigue is a frequent and often severe symptom in multiple sclerosis. Pathogenic mechanisms proposed for fatigue include the release of proinflammatory cytokines, which is thought to have an important effect on changes in the blood-brain barrier (BBB). To investigate whether fatigue is related to BBB disruption we stu...

journal_title：Journal of neurology

authors： Mainero C,Faroni J,Gasperini C,Filippi M,Giugni E,Ciccarelli O,Rovaris M,Bastianello S,Comi G,Pozzilli C

更新日期：1999-06-01 00:00:00

abstract：:The article The immediate impact of the COVID‑19 pandemic on motor neuron disease services and mortality in Scotland, written by Stella A. Glasmacher, Juan Larraz, Arpan R. Mehta, Patrick K. A. Kearns, Michael Wong, Judith Newton, Richard Davenport, George Gorrie, Ian Morrison, Javier Carod Artal, Siddharthan Chandran...

journal_title：Journal of neurology

authors： Glasmacher SA,Larraz J,Mehta AR,Kearns PKA,Wong M,Newton J,Davenport R,Gorrie G,Morrison I,Carod Artal J,Chandran S,Pal S,CARE-MND Consortium.

更新日期：2020-10-20 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