Rimmed vacuolar distal myopathy. An ultrastructural study.

abstract：:To clarify the changes of cervical (cVEMP) and ocular (oVEMP) vestibular evoked myogenic potentials induced by air-conducted sound (ACS) and bone-conducted vibration (BCV) in patients with vestibular neuritis (VN), patients with VN (n = 30) and normal controls (n = 45) underwent recording of cVEMP and oVEMP in respons...

journal_title：Journal of neurology

authors： Oh SY,Kim JS,Yang TH,Shin BS,Jeong SK

更新日期：2013-08-01 00:00:00

abstract：:Unlike most neurodegenerative disorders, individuals at risk from Huntington's disease can be identified prior to the onset of clinical signs of the disease by virtue of it being an autosomal dominant condition. This provides the hypothetical opportunity to delay disease onset and/or slow down the progression of the d...

journal_title：Journal of neurology

authors： Mason S,Barker RA

更新日期：2015-08-01 00:00:00

abstract：:We examined the morphology of spinal accessory motoneurons and immunoreactivity to neurotrophins, brain-derived neurotropic factor (BDNF) and neurotrophin (NT)-3, as well as the presence of reactive astrocytosis in 70 tiptoe walking Yoshimura (twy) mice that develop calcification at C1-C2 vertebral level compressing t...

journal_title：Journal of neurology

authors： Uchida K,Baba H,Maezawa Y,Furukawa S,Furusawa N,Imura S

更新日期：1998-12-01 00:00:00

abstract：:We should like to emphasize the following points: 1. Apathy is defined here as a quantified and observable behavioral syndrome consisting in a quantitative reduction of voluntary (or goal-directed) behaviors; 2. Therefore, apathy occurs when the systems that generate and control voluntary actions are altered; 3. These...

journal_title：Journal of neurology

authors： Levy R,Czernecki V

更新日期：2006-12-01 00:00:00

abstract：:Patients in a minimally conscious state (MCS) show restricted signs of awareness but are unable to communicate. We assessed cerebral glucose metabolism in MCS patients and tested the hypothesis that this entity can be subcategorized into MCS- (i.e., patients only showing nonreflex behavior such as visual pursuit, loca...

journal_title：Journal of neurology

authors： Bruno MA,Majerus S,Boly M,Vanhaudenhuyse A,Schnakers C,Gosseries O,Boveroux P,Kirsch M,Demertzi A,Bernard C,Hustinx R,Moonen G,Laureys S

更新日期：2012-06-01 00:00:00

abstract：:Two patients are described, in whom MRI detected unilateral signal abnormalities in the region of the inferior olivary nuclei, suggesting an early stage of olivary hypertrophy. MRI was performed 4 and 7 weeks respectively after traumatic brain-stem injury. Palatal myoclonus was concomitantly observed in one patient, w...

journal_title：Journal of neurology

authors： Birbamer G,Buchberger W,Kampfl A,Aichner F

更新日期：1993-07-01 00:00:00

abstract：:Untreated sleep disorders may contribute to secondary causes of uncontrolled hypertension, cardiovascular disease (CVD), and stroke. Restless legs syndrome, or Willis-Ekbom Disease (RLS/WED), is a common sensorimotor disorder with a circadian rhythmicity defined by an uncontrollable urge to move the legs that worsens ...

journal_title：Journal of neurology

authors： Ferini-Strambi L,Walters AS,Sica D

更新日期：2014-06-01 00:00:00

abstract：:Recent genetic studies suggest a Sardinian type of amyotrophic lateral sclerosis (ALS). Thus, ALS incidence, prevalence and survival were investigated in a large population of Sardinians aimed to disclose population-specific patterns and their temporal changes. This is a population-based incidence and prevalence study...

journal_title：Journal of neurology

authors： Pugliatti M,Parish LD,Cossu P,Leoni S,Ticca A,Saddi MV,Ortu E,Traccis S,Borghero G,Puddu R,Chiò A,Pirina P

更新日期：2013-02-01 00:00:00

abstract：:Thinning of the retinal nerve fiber layer (RNFL) of clinically unaffected eyes is seen in patients with multiple sclerosis (MS). It is uncertain when this thinning occurs, and whether ongoing RNFL loss can be measured over time with optical coherence tomography (OCT). Using time-domain OCT, we studied 34 patients with...

journal_title：Journal of neurology

authors： Henderson AP,Trip SA,Schlottmann PG,Altmann DR,Garway-Heath DF,Plant GT,Miller DH

更新日期：2010-07-01 00:00:00

abstract：:Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I). In this group of disorders, a multisystem phenotype is generally observed including the involvement of many organs, the endocrine, hematologic and central nervous systems. A few cases of CDG-Ia have...

journal_title：Journal of neurology

authors： Vermeer S,Kremer HP,Leijten QH,Scheffer H,Matthijs G,Wevers RA,Knoers NA,Morava E,Lefeber DJ

更新日期：2007-10-01 00:00:00

abstract：BACKGROUND AND OBJECTIVE:The number of neurological second opinions (SO) and tertiary referrals (TR) is increasing. The main purpose of this study was to assess whether a day-care admission made a meaningful contribution to standard neurological outpatient care, for a wide range of second opinions and tertiary referral...

journal_title：Journal of neurology

authors： Wieske L,Wijers D,Richard E,Vergouwen MD,Stam J

更新日期：2008-11-01 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：: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：:This study aimed to elucidate the natural history of senile myoclonic epilepsy, a type of myoclonic epilepsy associated with Alzheimer's disease in adult Down syndrome patients. Twelve Down syndrome patients over the age of 40 years with myoclonic epilepsy and Alzheimer's disease underwent clinical, neuropsychological...

journal_title：Journal of neurology

authors： d'Orsi G,Specchio LM,Apulian Study Group on Senile Myoclonic Epilepsy.

更新日期：2014-08-01 00:00:00

abstract：BACKGROUND:Spontaneous cervical artery dissections (sCAD) are often preceded by infections. However, existing data about inflammatory parameters remained inconsistent. Remarkably, concurrent information about the coagulation system, whose affection seems also reasonable to cause ischaemic events, are still lacking in s...

journal_title：Journal of neurology

authors： Pelz JO,Harms K,Metze M,Michalski D

更新日期：2018-02-01 00:00:00

abstract：OBJECTIVE:To evaluate the role of MR morphometry in the characterization of cerebral microangiopathy (CMA) in relation to clinical and neuropsychological impairment. SUBJECTS AND METHODS:3D MR images of 27 patients and 27 age-matched controls were morphometrically analysed for regional thickness. The normalized values...

journal_title：Journal of neurology

authors： Preul C,Lohmann G,Hund-Georgiadis M,Guthke T,von Cramon DY

更新日期：2005-04-01 00:00:00

abstract：:The diagnosis of natalizumab-associated progressive multifocal leukoencephalopathy (PML) in multiple sclerosis patients in an asymptomatic stage is crucial since it is associated with better clinical outcome measures. Current diagnostic criteria on PML diagnosis in asymptomatic patients require the detection of JC vir...

journal_title：Journal of neurology

authors： Wattjes MP,Vennegoor A,Mostert J,van Oosten BW,Barkhof F,Killestein J

更新日期：2014-06-01 00:00:00

abstract：:Neurological complications following rubella are only rarely encountered. However, in many cases severe neurological impairment may occur, leading to permanent disability. In a recent epidemic of rubella in Israel during the years 1978-1979, 20 patients with severe neurological complications have been seen. We report ...

journal_title：Journal of neurology

authors： Bechar M,Davidovich S,Goldhammer G,Machtey I,Gadoth N

更新日期：1982-01-01 00:00:00

abstract：:Multiple system atrophy and progressive supranuclear palsy are disabling neurodegenerative disorders, also known as atypical parkinsonian syndromes. Currently, no health economic evaluations of these diseases are available. The objective of this study was to evaluate disease-related costs in German patients with multi...

journal_title：Journal of neurology

authors： Winter Y,Stamelou M,Cabanel N,Sixel-Döring F,Eggert K,Höglinger GU,Herting B,Klockgether T,Reichmann H,Oertel WH,Dodel R,Spottke AE

更新日期：2011-10-01 00:00:00

abstract：:Migraine is a common debilitating neurological disease characterised by attacks of severe headache with or without preceding aura. Its aetiology remains elusive; however it is clear that an interplay of genetic and environmental components play an important role. Familial hemiplegic migraine (FHM) is a rare and severe...

journal_title：Journal of neurology

authors： Ramagopalan SV,Ramscar NE,Cader MZ

更新日期：2007-12-01 00:00:00

abstract：:Serial magnetic resonance imaging (MRI) detects substantial subclinical disease activity in multiple sclerosis (MS) and is presently included in most treatment trials as an objective outcome measure. Our current knowledge of the role of MRI in MS treatment trials is derived from very limited patient studies, and the a...

journal_title：Journal of neurology

authors： Barkhof F,Filippi M,Miller DH,Tofts P,Kappos L,Thompson AJ

更新日期：1997-02-01 00:00:00

abstract：:Although the beneficial effect of subcutaneous injections of botulinum toxin type A (BTX-A) is well known in both blepharospasm and hemifacial spasm, the position of the injection sites around the orbicularis oculi may influence the effectiveness and side effects. Here we report results of preseptal and pretarsal BTX-...

journal_title：Journal of neurology

authors： Cakmur R,Ozturk V,Uzunel F,Donmez B,Idiman F

更新日期：2002-01-01 00:00:00

abstract：:Horizontal eye-movement responses of four patients with Alzheimer-type dementia were recorded using the infrared oculographic technique. Abnormally frequent saccadic intrusions occurred during the fixation and slow, smooth pursuit tasks in all four patients. Saccadic intrusions have previously been reported in the lit...

journal_title：Journal of neurology

authors： Jones A,Friedland RP,Koss B,Stark L,Thompkins-Ober BA

更新日期：1983-01-01 00:00:00

abstract：:Clinical data and the serum and cerebrospinal fluid (CSF) findings of 71 patients with Guillain-Barré syndrome (GBS), 7 with Fisher syndrome and 24 with chronic inflammatory polyradiculoneuropathy (CIP), were analysed. Isoelectric focusing of serum and CSF together with different formulae and diagrams were applied to ...

journal_title：Journal of neurology

authors： Segurado OG,Krüger H,Mertens HG

更新日期：1986-08-01 00:00:00

abstract：:Apraxia of lid opening (ALO) is a non-paralytic inability to open the eyes or sustain lid elevation at will. The exact pathophysiological mechanisms underlying the syndrome are still unknown. ALO has been reported in patients with Parkinson's disease (PD) after subthalamic nucleus (STN) deep brain stimulation (DBS), s...

journal_title：Journal of neurology

authors： Tommasi G,Krack P,Fraix V,Pollak P

更新日期：2012-09-01 00:00:00

abstract：:Intravenous immunoglobulins (IVIg) are effective for treating chronic inflammatory demyelinating polyneuropathy (CIDP), although treatment needs are variable and need to be individualized. Dose and frequency requirements are not currently predictable in advance. In Guillain-Barré syndrome, IVIg interpatient pharmacoki...

journal_title：Journal of neurology

authors： Rajabally YA,Wong SL,Kearney DA

更新日期：2013-08-01 00:00:00

abstract：:Specific mutations in COL6A3 have recently been reported as the cause of isolated recessive dystonia, which is a rare movement disorder. In all patients, at least one mutation was located in Exons 41 and 42. In an attempt to replicate these findings, we assessed by direct sequencing the frequency of rare variants in E...

journal_title：Journal of neurology

authors： Lohmann K,Schlicht F,Svetel M,Hinrichs F,Zittel S,Graf J,Lohnau T,Schmidt A,Mir P,Krause P,Lang AE,Jabusch HC,Wolters A,Kamm C,Zeuner KE,Altenmüller E,Naz S,Chung SJ,Kostic VS,Münchau A,Kühn AA,Brüggemann N,Kl

更新日期：2016-04-01 00:00:00

abstract：INTRODUCTION:Ataxic polyneuropathy, which occurs in endemic form in an area in southwest Nigeria, is attributed to exposure to cyanide from cassava foods. Exposure to cyanide from cassava is, however, not exclusive to this endemic area. In this study, the occurrence of ataxic polyneuropathy was compared in two communit...

journal_title：Journal of neurology

authors： Oluwole OS,Onabolu AO,Cotgreave IA,Rosling H,Persson A,Link H

更新日期：2002-08-01 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：:Recent studies have shown that cerebrospinal fluid (CSF) levels of α-synuclein (α-syn) are highly elevated in patients with Creutzfeldt-Jakob disease (CJD) compared to controls. However, the diagnostic value of CSF α-syn in CJD has not been established. To confirm whether CSF α-syn is increased in CJD and is a useful ...

journal_title：Journal of neurology

authors： Kasai T,Tokuda T,Ishii R,Ishigami N,Tsuboi Y,Nakagawa M,Mizuno T,El-Agnaf OM

更新日期：2014-06-01 00:00:00