Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.

abstract：:Frailty is known to predict dementia. However, its link with neurodegenerative alterations of the central nervous system (CNS) is not well understood at present. We investigated the association between the biomechanical response of the CNS and frailty in older adults suspected of normal pressure hydrocephalus (NPH) pr...

journal_title：Journal of neurology

authors： Vallet A,Del Campo N,Hoogendijk EO,Lokossou A,Balédent O,Czosnyka Z,Balardy L,Payoux P,Swider P,Lorthois S,Schmidt E

更新日期：2020-05-01 00:00:00

abstract：BACKGROUND:Stroke has a major impact on survivors. Our study was designed to describe the mental status and health-related quality of life (HRQoL) in long-term survivors of TIA or minor ischaemic stroke (MIS) and evaluate associations of mental and physical factors with HR-QoL. METHODS:A random sample of the 10-year s...

journal_title：Journal of neurology

authors： van Wijk I,Gorter JW,Lindeman E,Kappelle LJ,van Gijn J,Koudstaal PJ,Algra A

更新日期：2007-08-01 00:00:00

abstract：:We investigated the levels of transforming growth factor beta 1 (TGF-beta 1) in cerebrospinal fluid (CSF) in children with meningitis, with a view to prognostic relevance. CSF TGF-beta 1 levels on admission were measured by a sandwich enzyme immunoassay in children with bacterial meningitis (n = 16), aseptic meningiti...

journal_title：Journal of neurology

authors： Huang CC,Chang YC,Chow NH,Wang ST

更新日期：1997-10-01 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：:The pathogenesis of myopathies occurring in critically ill patients (critical illness myopathy, CIM) is poorly understood. Both local and systemic responses to sepsis and other severe insults to the body are presumed to be involved but the precise mechanisms by which muscle function is impaired are far from clear. To ...

journal_title：Journal of neurology

authors： Friedrich O,Hund E,Weber C,Hacke W,Fink RH

更新日期：2004-01-01 00:00:00

abstract：:To define the incidence and type of neurological complications and associated factors, we reviewed 41 consecutive patients who had 45 procedures for liver transplantation. Encephalopathy occurred after 28 procedures (62%) with immediate onset and no significant recovery before death or re-transplantation in 11 (24%), ...

journal_title：Journal of neurology

authors： Ghaus N,Bohlega S,Rezeig M

更新日期：2001-12-01 00:00:00

abstract：:Mutations in the mitofusin 2 (MFN2) gene are a major cause of primary axonal Charcot- Marie-Tooth (CMT) neuropathy. This study aims at further characterization of cerebral white matter alterations observed in patients with MFN2 mutations. Molecular genetic, magnetic resonance imaging (MRI), magnetic resonance spectros...

journal_title：Journal of neurology

authors： Brockmann K,Dreha-Kulaczewski S,Dechent P,Bönnemann C,Helms G,Kyllerman M,Brück W,Frahm J,Huehne K,Gärtner J,Rautenstrauss B

更新日期：2008-07-01 00:00:00

abstract：BACKGROUND:Perivascular spaces can become detectable on magnetic resonance imaging (MRI) upon enlargement, referred to as enlarged perivascular spaces (EPVS) or Virchow-Robin spaces. EPVS have been linked to small vessel disease. Some studies have also indicated an association of EPVS to neuroinflammation and/or neurod...

journal_title：Journal of neurology

authors： Granberg T,Moridi T,Brand JS,Neumann S,Hlavica M,Piehl F,Ineichen BV

更新日期：2020-11-01 00:00:00

abstract：BACKGROUND:Tumefactive demyelinating lesions of the central nervous system can be the initial presentation in various pathological entities [multiple sclerosis (the most common), Balo's concentric sclerosis, Schilder's disease and acute disseminated encephalomyelitis] with overlapping clinical presentation. The aim of ...

journal_title：Journal of neurology

authors： Balloy G,Pelletier J,Suchet L,Lebrun C,Cohen M,Vermersch P,Zephir H,Duhin E,Gout O,Deschamps R,Le Page E,Edan G,Labauge P,Carra-Dallieres C,Rumbach L,Berger E,Lejeune P,Devos P,N'Kendjuo JB,Coustans M,Auffray-Calv

更新日期：2018-10-01 00:00:00

abstract：OBJECTIVE:To determine the prevalence and characteristics of the cricopharyngeal bar (CPB), defined as marked protrusion with lacking relaxation and stricture of the upper esophageal sphincter on videofluoroscopy, in patients with inclusion body myositis (IBM). METHODS:We conducted a case-control study of comprehensiv...

journal_title：Journal of neurology

authors： Taira K,Yamamoto T,Mori-Yoshimura M,Sajima K,Takizawa H,Shinmi J,Oya Y,Nishino I,Takahashi Y

更新日期：2020-09-26 00:00:00

abstract：:Out of 72 patients treated for Borrelia burgdorferi meningopolyradiculoneuritis facial palsies occurred in 22 (12 unilateral, 10 bilateral). Eleven of the 32 pareses were initially complete. By the follow-up examination patients had recovered well with slight sequelae in 22% without cosmetically disfiguring pareses or...

journal_title：Journal of neurology

authors： Angerer M,Pfadenhauer K,Stöhr M

更新日期：1993-05-01 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：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：OBJECTIVES:Resistance to activated protein C (APC) is the most frequent cause of thrombophilia and a well known risk factor for deep and cerebral vein thrombosis. Its causative role in ischaemic stroke is still a matter of debate. We undertook this study to determine the prevalence of APC-resistance in a cohort of cons...

journal_title：Journal of neurology

authors： Zunker P,Hohenstein C,Plendl HJ,Zeller JA,Caso V,Georgiadis D,Allardt A,Deuschl G

更新日期：2001-08-01 00:00:00

abstract：OBJECTIVE:Determine toxicity and efficacy of autologous hematopoietic stem cell transplantation (HSCT) for patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who are dependent on intravenous immunoglobulins or plasmapheresis. METHODS:Unselected peripheral blood stem cells were re-infused on...

journal_title：Journal of neurology

authors： Burt RK,Balabanov R,Tavee J,Han X,Sufit R,Ajroud-Driss S,Jovanovic B,Quigley K,Arnautovic I,Helenowski I,Sharrack B

更新日期：2020-11-01 00:00:00

abstract：:Extra- and intraneural ganglionic cysts rarely involved peripheral nerves. They are found in the neighbourhood of large joints. Intraneural cysts prefer the deep peroneal nerve and cause intermittent pain and severe nerve damage. The ulnar nerve is affected most often at the wrist. There are different types of distal ...

journal_title：Journal of neurology

authors： Assmus H,Kühner A,Hagenlocher U

更新日期：1975-06-09 00:00:00

abstract：OBJECTIVE:To assess the changes of muscle-related biomarkers at the early stage of amyotrophic lateral sclerosis, and to confirm these findings in an experimental animal model. METHODS:Thirty-nine subjects with sporadic amyotrophic lateral sclerosis and 20 healthy controls were enrolled and longitudinally evaluated. W...

journal_title：Journal of neurology

authors： Ito D,Hashizume A,Hijikata Y,Yamada S,Iguchi Y,Iida M,Kishimoto Y,Moriyoshi H,Hirakawa A,Katsuno M

更新日期：2019-12-01 00:00:00

abstract：:Thirty-five patients with intraventricular haemorrhage shown by CT underwent cerebral arteriography. In 15 patients arteriography showed an occlusion of a carotid or middle cerebral artery. Secondary bleeding into an infarction caused the intraventricular haemorrhage. All 15 patients were aged over 40 years. ...

journal_title：Journal of neurology

authors： Cohn DF,Avrahami E

更新日期：1983-01-01 00:00:00

abstract：:Whereas the effect of interferons (IFNs) on magnetic resonance imaging (MRI) outcome measures in patients with multiple sclerosis (MS) has been convincingly shown, little work has been done to define the between-patient heterogeneity of treatment response. Our aim was to assess the distribution of the effect of IFNbet...

journal_title：Journal of neurology

authors： Sormani MP,Bruzzi P,Beckmann K,Kappos L,Miller DH,Polman C,Pozzilli C,Thompson AJ,Wagner K,Filippi M

更新日期：2005-12-01 00:00:00

abstract：BACKGROUND:Multiple sclerosis (MS) is an autoimmune, demyelinating disease of the central nervous system. The treatment of MS has always been a focus of neurological research. To date, the US Food and Drug Administration has approved 15 medications for modifying the course of multiple sclerosis. In this study, we exami...

journal_title：Journal of neurology

authors： Li H,Hu F,Zhang Y,Li K

更新日期：2020-12-01 00:00:00

abstract：BACKGROUND:Rehabilitation seems to promote brain plasticity, but objective measures of efficacy are lacking and there is a limited understanding of the mechanisms underlying functional recovery. OBJECTIVE:To study functional and structural brain changes induced by gait rehabilitation. METHODS:We enrolled MS inpatient...

journal_title：Journal of neurology

authors： Tavazzi E,Bergsland N,Cattaneo D,Gervasoni E,Laganà MM,Dipasquale O,Grosso C,Saibene FL,Baglio F,Rovaris M

更新日期：2018-06-01 00:00:00

abstract：:Disease management is defined as any medical or pharmaceutical intervention designed to improve both outcomes for the patient and overall cost-effectiveness of the health plan. Disease management focuses on the patient throughout the entire course of the disease, involving both health providers and third-party payers....

journal_title：Journal of neurology

authors： Matheron L,Barrau K,Blin O

更新日期：1998-08-01 00:00:00

abstract：:Fatigue is an important contributor to quality of life in patients who survive aneurysmal subarachnoid hemorrhage (SAH), but the determinants of this fatigue are unclear. We assessed the occurrence of fatigue 1 year after SAH and its relation to physical or cognitive impairment, passive coping, and emotional problems,...

journal_title：Journal of neurology

authors： Passier PE,Post MW,van Zandvoort MJ,Rinkel GJ,Lindeman E,Visser-Meily JM

更新日期：2011-06-01 00:00:00

abstract：:During a period of 42 months, we studied the prevalence of epilepsy in a specific health district, composing by four towns with 98,405 inhabitants older than 10 years. This has been accomplished by a two-phase cross-sectional study. The prevalence rate observed was 4.12/1000 inhabitants for all types of epilepsy. No s...

journal_title：Journal of neurology

authors： Luengo A,Parra J,Colás J,Rámos F,Carreras T,Fernández-Pozos MJ,Muñoz A,Hernando V

更新日期：2001-09-01 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：:Deep brain stimulation of the subthalamic nucleus (STN) is an effective treatment modality for motor symptoms of advanced Parkinson's disease. Recent studies focus on exploring its possible effects on cognition and behavior. We present a case with acute cognitive dysfunction due to misalignment of the electrodes to th...

journal_title：Journal of neurology

authors： Cakmakli GY,Oruckaptan H,Saka E,Elibol B

更新日期：2009-08-01 00:00:00

abstract：:An 18-year-old man suffered from acute Sydenham chorea appearing coincidently with beta-haemolytic streptococcal throat infection. Imaging techniques documented lesions of basal ganglia and substantia nigra. In the early course of the disease vascular lesions may be important pathogenetic mechanisms of this acquired m...

journal_title：Journal of neurology

authors： Heye N,Jergas M,Hötzinger H,Farahati J,Pöhlau D,Przuntek H

更新日期：1993-02-01 00:00:00

abstract：INTRODUCTION:The present study aimed to survey the prevalence of prodromal symptoms of Parkinson's disease (PD) in Japanese health checkup examinees, for identifying at-risk subjects. METHODS:We conducted a questionnaire survey of annual health checkup examinees without neurological symptoms using the following self-r...

journal_title：Journal of neurology

authors： Hattori M,Tsuboi T,Yokoi K,Tanaka Y,Sato M,Suzuki K,Arahata Y,Hori A,Kawashima M,Hirakawa A,Washimi Y,Watanabe H,Katsuno M

更新日期：2020-05-01 00:00:00

abstract：:Silver syndrome/SPG17 is a motor manifestation of mutations in the BSCL2 gene and usually presents as a complicated form of hereditary spastic paraplegia (HSP). We present clinical data, follow-up, and genetic results of seven patients with Silver syndrome/SPG17 including a family with a variable intrafamilial phenoty...

journal_title：Journal of neurology

authors： Musacchio T,Zaum AK,Üçeyler N,Sommer C,Pfeifroth N,Reiners K,Kunstmann E,Volkmann J,Rost S,Klebe S

更新日期：2017-01-01 00:00:00

abstract：RATIONALE:Phase I/II studies of autologous hematopoietic stem cell transplantation (HSCT) for multiple sclerosis ( MS) were initiated, based on results of experimental transplantation in animal models of multiple sclerosis and clinical observations in patients treated concomitantly for malignant disease. PATIENTS:Eigh...

journal_title：Journal of neurology

authors： Fassas A,Passweg JR,Anagnostopoulos A,Kazis A,Kozak T,Havrdova E,Carreras E,Graus F,Kashyap A,Openshaw H,Schipperus M,Deconinck E,Mancardi G,Marmont A,Hansz J,Rabusin M,Zuazu Nagore FJ,Besalduch J,Dentamaro T,Fouill

更新日期：2002-08-01 00:00:00