[Pseudodystrophic muscle glycogenosis in adults. (Acid maltase deficiency syndrome) (author's transl)].

abstract：:Alemtuzumab is an anti-CD52 monoclonal antibody recently licensed for use in relapsing-remitting multiple sclerosis. Here, we report our experience of its use in neuromyelitis optica (NMO) spectrum disorders. A retrospective case review of patients treated with alemtuzumab in Cambridge, UK, was conducted to identify t...

journal_title：Journal of neurology

authors： Azzopardi L,Cox AL,McCarthy CL,Jones JL,Coles AJ

更新日期：2016-01-01 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：:In this review, we describe the wide clinical spectrum of features that can be seen in multiple system atrophy (MSA) with a focus on the premotor phase and the non-motor symptoms providing an up-to-date overview of the current understanding in this fast-growing field. First, we highlight the non-motor features at dise...

journal_title：Journal of neurology

authors： Chelban V,Catereniuc D,Aftene D,Gasnas A,Vichayanrat E,Iodice V,Groppa S,Houlden H

更新日期：2020-09-01 00:00:00

abstract：:The frequency of malignant diseases among 1866 living and 340 deceased multiple sclerosis (MS) patients was investigated in Finland. The study revealed a low prevalence (0.64%) and mortality (0.07%) rate of cancer among MS patients. The difference between MS patients and general population was significant. The highest...

journal_title：Journal of neurology

authors： Palo J,Duchesne J,Wikström J

更新日期：1977-10-07 00:00:00

abstract：:Hirayama's disease is a benign juvenile form of focal amyotrophy affecting the upper limbs. Previous studies have suggested that the disorder is a neck flexion induced cervical myelopathy. We report clinical and magnetic resonance imaging findings in nine patients with Hirayama's disease. Cervical imaging of seven pat...

journal_title：Journal of neurology

authors： Schröder R,Keller E,Flacke S,Schmidt S,Pohl C,Klockgether T,Schlegel U

更新日期：1999-11-01 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：:Several viruses have the capacity to cause serious infections of the nervous system in patients who are immunosuppressed. Individuals may be immunosuppressed because of primary inherited immunodeficiency, secondary immunodeficiency due to particular diseases such as malignancy, administration of immunosuppressant drug...

journal_title：Journal of neurology

authors： Kennedy PGE

更新日期：2020-10-13 00:00:00

abstract：:Urate is a natural antioxidant, and high serum urate levels could be protective against the development of amyotrophic lateral sclerosis (ALS). To determine if serum urate concentrations were lower in ALS patients than in healthy controls, we compared serum urate levels in 132 ALS patients and 337 age/sex-matched cont...

journal_title：Journal of neurology

authors： Zoccolella S,Simone IL,Capozzo R,Tortelli R,Leo A,D'Errico E,Logroscino G

更新日期：2011-02-01 00:00:00

abstract：:An immunohistochemical study using the mirror-image technique was performed in order to establish whether amyloid P component is involved in the mechanism of deposition of amyloid fibrils in senile plaques (SPs) in Alzheimer-type dementia (ATD). Ninety percent of beta/A4 protein-immunoreactive SPs were also stained by...

journal_title：Journal of neurology

authors： Kimura M,Arai H,Takahashi T,Iwamoto N

更新日期：1994-01-01 00:00:00

abstract：BACKGROUND:In vascular dementia (VaD), assessment of cerebral blood flow by single photon emission computed tomography (CBF SPECT) has been used to detect a patchy decrease of blood flow or a frontal reduction. In addition to reduced blood flow, the heterogeneous distribution of cerebral blood flow is often observed in...

journal_title：Journal of neurology

authors： Yoshikawa T,Murase K,Oku N,Kitagawa K,Imaizumi M,Takasawa M,Rishu P,Hashikawa K,Nishikawa T,Hori M,Matsumoto M

更新日期：2003-02-01 00:00:00

abstract：:Cerebello-thalamo-cortical circuit has been indicated important for tremor in Parkinson's disease (PD), but the role of dentate nucleus (DN) in parkinsonian tremor remains unclear. To investigate whether DN plays a role in PD tremor, we recruited 50 PD and 29 age-matched health controls (HC). The patients were divided...

journal_title：Journal of neurology

authors： Ma H,Chen H,Fang J,Gao L,Ma L,Wu T,Hou Y,Zhang J,Feng T

更新日期：2015-10-01 00:00:00

abstract：:Six patients with amyotrophic lateral sclerosis were given from 800 to 4000 micrograms of thyrotropin-releasing hormone (TRH) intrathecally for a period of 2-6 months. The progressive course of this disease, manifested by increasing atrophy, paralysis and disability score, was not altered. This supports the hypothesis...

journal_title：Journal of neurology

authors： Stober T,Schimrigk K,Dietzsch S,Thielen T

更新日期：1985-01-01 00:00:00

abstract：BACKGROUND:The symptomatic treatment of myotonia and myalgia in patients with dystrophic and non-dystrophic myotonias is often not satisfactory. Some patients anecdotally report symptoms' relief through consumption of cannabis. METHODS:A combination of cannabidiol and tetrahydrocannabinol (CBD/THC) was prescribed as c...

journal_title：Journal of neurology

authors： Montagnese F,Stahl K,Wenninger S,Schoser B

更新日期：2020-02-01 00:00:00

abstract：:Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder of progressive heterotopic ossification (HO) caused by a recurrent activating mutation of ACVR1/ALK2, a bone morphogenetic protein (BMP) type I receptor. FOP is characterized by progressive HO, which is associated with inflammation in the setting o...

journal_title：Journal of neurology

authors： Kan L,Kitterman JA,Procissi D,Chakkalakal S,Peng CY,McGuire TL,Goldsby RE,Pignolo RJ,Shore EM,Kaplan FS,Kessler JA

更新日期：2012-12-01 00:00:00

abstract：:Multiple System Atrophy (MSA) and idiopathic Parkinson's disease (PD) can be difficult to distinguish. There is an ongoing debate about the diagnostic value of the growth-hormone response to clonidine (CGH-test) in PD and MSA. We investigated whether the CGH-test can identify individual patients in the early stages of...

journal_title：Journal of neurology

authors： Strijks E,van't Hof M,Sweep F,Lenders JW,Oyen WJ,Horstink MW

更新日期：2002-09-01 00:00:00

abstract：OBJECTIVE:To determine the response to treatment and the long-term outcome of patients with the antisynthetase syndrome associated with anti-Jo-1-antibodies. PATIENTS AND METHODS:A total of 12 patients with histologically proven myositis and anti-Jo-1-autoantibodies were evaluated over a mean follow-up period of 66.4 ...

journal_title：Journal of neurology

authors： Späth M,Schröder M,Schlotter-Weigel B,Walter MC,Hautmann H,Leinsinger G,Pongratz D,Müller-Felber W

更新日期：2004-07-01 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：:Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects motor neurons. It is caused by mutations in the survival motor neuron gene 1 (SMN1). The SMN2 gene, which is the highly homologous SMN1 copy that is present in all the patients, is unable to prevent the disease. An SMN2 dosage method was app...

journal_title：Journal of neurology

authors： Cuscó I,Barceló MJ,Rojas-García R,Illa I,Gámez J,Cervera C,Pou A,Izquierdo G,Baiget M,Tizzano EF

更新日期：2006-01-01 00:00:00

abstract：:Coenzyme Q10 (CoQ) was measured in serum and muscle of 17 patients with ophthalmoplegia plus (including 5 patients with Kearns-Sayre syndrome), in muscle of 9 patients with neurogenic atrophies, 5 patients with myositis, and 5 patients with progressive muscular dystrophies (including 1 patient with oculopharyngeal dys...

journal_title：Journal of neurology

authors： Zierz S,Jahns G,Jerusalem F

更新日期：1989-02-01 00:00:00

abstract：:This study aimed at identifying gender-specific differences in stroke knowledge, stroke risk perception and the educational effects of a multimodal educational intervention. We performed computer-assisted telephone surveys among an average sample of 500 members of the general public (44.0% male, 56.0% female), before ...

journal_title：Journal of neurology

authors： Marx JJ,Klawitter B,Faldum A,Eicke BM,Haertle B,Dieterich M,Nedelmann M

更新日期：2010-03-01 00:00:00

abstract：:Risk of relapse after natalizumab (NAT) cessation and switch to dimethyl fumarate (DMF) is unknown. The objective of this paper is to identify the risk and associated risk factors for relapse after switching from NAT to DMF in relapsing-remitting multiple sclerosis. Patients (n = 30) were treated with NAT for ≥12 mont...

journal_title：Journal of neurology

authors： Zurawski J,Flinn A,Sklover L,Sloane JA

更新日期：2016-08-01 00:00:00

abstract：:A myasthenia gravis (MG) patient who seems to have recovered can later have recurrence of myasthenic signs. Clearly clinical remission does not always correspond to the normalization of all the factors involved in the pathogenesis of the disease. In ten patients who had apparently recovered from MG, electromyographic ...

journal_title：Journal of neurology

authors： Scoppetta C,Bartoccioni E,David P,Flamini G,Lo Monaco M,Scuderi F,Tonali P

更新日期：1982-01-01 00:00:00

abstract：:A linkage and association of the CD45 (protein-tyrosine phosphatase, receptor-type C) C77G polymorphism and multiple sclerosis (MS) has been found in some studies but not in others. We analysed the C77G polymorphism in MS patients from the genetically homogeneous population of Sardinia. Using the transmission disequil...

journal_title：Journal of neurology

authors： Cocco E,Murru MR,Melis C,Schirru L,Solla E,Lai M,Rolesu M,Marrosu MG

更新日期：2004-09-01 00:00:00

abstract：:Stiff-person syndrome (SPS) is a rare condition of progressive muscular rigidity and spasm, frequently accompanied by other autoimmune conditions, an association which has been further strengthened by the discovery of anti-GAD antibodies and the response of SPS to immunotherapies. Intravenous immunoglobulin (IVIg) is ...

journal_title：Journal of neurology

authors： Gnanapavan S,Vincent A,Giovannoni G

更新日期：2011-10-01 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：BACKGROUND AND PURPOSE:Considerable studies have reported inconsistent relationships between ischemic stroke and a large number of factors. These uncertainties may reflect the susceptibility to confounding in observational studies. We aimed to assess genetic correlations and causal relationships between ischemic stroke...

journal_title：Journal of neurology

authors： Cai H,Cai B,Liu Z,Wu W,Chen D,Fang L,Chen L,Sun W,Liang J,Zhang H

更新日期：2020-07-01 00:00:00

abstract：: ...

journal_title：Journal of neurology

authors： Robertson JA,Tallantyre EC

更新日期：2018-12-01 00:00:00

abstract：:Hemichorea-hemiballism (HCHB) was infrequently related to cortical lesions such as tumor or infarction. Although functional derangement of the basal ganglia (BG) or the thalamus (Th) was suggested, pathomechanism of HCHB secondary to cortical lesions remains uncertain. We recruited the patients with HCHB secondary to ...

journal_title：Journal of neurology

authors： Hwang KJ,Hong IK,Ahn TB,Yi SH,Lee D,Kim DY

更新日期：2013-12-01 00:00:00

abstract：OBJECTIVES:Recent retrospective studies found sleep disorders, including obstructive sleep apnea and its symptoms to occur more often in patients following aneurysmal subarachnoid hemorrhage, but studies investigating the incidence of subarachnoid hemorrhage in patients with diagnosed obstructive sleep apnea [OSA] comp...

journal_title：Journal of neurology

authors： Zaremba S,Albus L,Schuss P,Vatter H,Klockgether T,Güresir E

更新日期：2019-06-01 00:00:00

abstract：:Two siblings with multiple intracranial haemangiomatosis are reported, each having psychomotor retardation, epilepsy and gyriform type calcification in the occipital and frontal lobes. There were haemangiomas in one autopsy case with calcification in the deep layers of the cortex and subcortical white matter. ...

journal_title：Journal of neurology

authors： Tateno A,Matsui A,Sakuragawa N,Nonaka I,Arima M

更新日期：1985-01-01 00:00:00