ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.

abstract：:Recessive mutations in GJC2, the gene-encoding connexin 47 (Cx47), cause Pelizaeus-Merzbacher-like disease type 1, a severe dysmyelinating disorder. One recessive mutation (p.Ile33Met) has been associated with a much milder phenotype--hereditary spastic paraplegia type 44. Here, we present evidence that a novel Arg98L...

journal_title：Journal of neurology

authors： Abrams CK,Scherer SS,Flores-Obando R,Freidin MM,Wong S,Lamantea E,Farina L,Scaioli V,Pareyson D,Salsano E

更新日期：2014-10-01 00:00:00

abstract：:Premature atherosclerosis and cardiac complications have been reported among the systemic manifestations of cerebrotendinous xanthomatosis (CTX), a rare bile acid disorder with predominantly neurological features. In some cases, myocardial infarction has been the cause of sudden death. We examined nine CTX patients to...

journal_title：Journal of neurology

authors： Dotti MT,Mondillo S,Plewnia K,Agricola E,Federico A

更新日期：1998-11-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Cerebral microbleeds (CMBs) are a possible predictor of symptomatic intracranial hemorrhage (sICH) and poor function outcome (PFO). We aimed to investigate the presence of CMBs on increased incidence of sICH and PFO in acute ischemic stroke patients receiving intravenous thrombolysis (IVT) treatm...

journal_title：Journal of neurology

authors： Yan J,Qiu J,Wu X,Ge Y,Wang J,Wang Y

更新日期：2020-02-01 00:00:00

abstract：:Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent sensory and motor neuropathy in individual nerves starting in adolescence or young adulthood, focal conduction abnormalities at entrapment sites on nerve conduction studies, and sausage-like swellings (tomacula) of the myelin...

journal_title：Journal of neurology

authors： Attarian S,Fatehi F,Rajabally YA,Pareyson D

更新日期：2020-08-01 00:00:00

abstract：:Eighteen patients with dural arteriovenous fistulas or intradural arteriovenous malformations underwent clinical and neurophysiological examination. Bladder disturbances, pain, sensory abnormalities and involvement of both upper and lower motor neurons were commonly observed. Abnormal findings were obtained both in el...

journal_title：Journal of neurology

authors： Linden D,Berlit P

更新日期：1996-01-01 00:00:00

abstract：:Nerve conduction studies (NCS) and electromyography (EMG), often shortened to 'EMGs', are a useful adjunct to clinical examination of the peripheral nervous system and striated skeletal muscle. NCS provide an efficient and rapid method of quantifying nerve conduction velocity (CV) and the amplitude of both sensory ner...

journal_title：Journal of neurology

authors： Kane NM,Oware A

更新日期：2012-07-01 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：:We have performed genetic screening on the skeletal muscle chloride channel gene (CLCN1) in Taiwanese population. A total of four patients with myotonia congenita (MC) together with 106 normal individuals were examined. All 23 exons of the CLCN1 gene were analysed by direct sequencing of PCR products to detect the nuc...

journal_title：Journal of neurology

authors： Jou SB,Chang LI,Pan H,Chen PR,Hsiao KM

更新日期：2004-06-01 00:00:00

abstract：:Predicting unfavorable outcome is of paramount importance in clinical decision making. Accordingly, we designed this multinational study, which provided the largest case series of tuberculous meningitis (TBM). 43 centers from 14 countries (Albania, Croatia, Denmark, Egypt, France, Hungary, Iraq, Italy, Macedonia, Roma...

journal_title：Journal of neurology

authors： Erdem H,Ozturk-Engin D,Tireli H,Kilicoglu G,Defres S,Gulsun S,Sengoz G,Crisan A,Johansen IS,Inan A,Nechifor M,Al-Mahdawi A,Civljak R,Ozguler M,Savic B,Ceran N,Cacopardo B,Inal AS,Namiduru M,Dayan S,Kayabas U,Par

更新日期：2015-01-01 00:00:00

abstract：:Recent studies suggest that the risk of cerebral infarction is increased during the puerperium but not during pregnancy itself. Most of the known causes of ischaemic stroke in the young have been reported during pregnancy. In most of these conditions, it is uncertain whether pregnancy is coincidental or plays a role i...

journal_title：Journal of neurology

authors： Mas JL,Lamy C

更新日期：1998-06-01 00:00:00

abstract：:The International Cooperative Ataxia Rating Scale (ICARS) is a 100-point semiquantitative scale designed primarily to assess cerebellar dysfunction. However, little is known of the metric properties of this scale. We assessed the ICARS by rating the severity of cerebellar dysfunction in 27 patients with spinocerebella...

journal_title：Journal of neurology

authors： Wang PS,Liu RS,Yang BH,Soong BW

更新日期：2007-06-01 00:00:00

abstract：:Cognitive impairment belongs to the core symptoms in MS affecting quality of life, self-esteem, and social as well as occupational functioning. Due to this high impact on patients' well-being efficient treatment concepts are required. Imaging studies on cognition have shown that functional reorganisation takes place s...

journal_title：Journal of neurology

authors： Penner IK,Opwis K,Kappos L

更新日期：2007-05-01 00:00:00

abstract：:A patient is described who developed complex partial seizures with secondary generalization 3 years after a severe viral encephalitis with a CT and EEG identified lesion in the left insular cortex and its surrounding structures. When the seizures first occurred CT and MRI as well as repeated interictal conventional EE...

journal_title：Journal of neurology

authors： Dressler D,Voth E,Feldmann M,Henze T,Felgenhauer K

更新日期：1989-07-01 00:00:00

abstract：:Non motor symptoms (NMS) of PD are a key determinant of health, quality of life and societal cost of PD. Contrary to common perception, many NMS of PD occur early in PD and some may even predate the diagnosis of PD which is based on motor signs. These include olfactory deficit, sleep problems such as REM behaviour dis...

journal_title：Journal of neurology

authors： Chaudhuri KR,Naidu Y

更新日期：2008-09-01 00:00:00

abstract：:Patients with multiple system atrophy (MSA) often have evidence of compromised gastrointestinal motility. Ghrelin is a gut hormone that influences gastrointestinal motility in humans. The aim of this study was to determine whether ghrelin secretion is affected in MSA patients, and to investigate the relation between g...

journal_title：Journal of neurology

authors： Ozawa T,Tokunaga J,Arakawa M,Ishikawa A,Takeuchi R,Mezaki N,Miura T,Sakai N,Hokari M,Takeshima A,Utsumi K,Kondo T,Yokoseki A,Nishizawa M

更新日期：2013-08-01 00:00:00

abstract：:Natalizumab (TYSABRI(®)), a specific α4-integrin antagonist, is approved as a second-line treatment of relapsing-remitting MS (RRMS) patients who fail therapy with interferons or as first-line treatment of patients with highly active relapsing-remitting disease. Since the market introduction of natalizumab as a monoth...

journal_title：Journal of neurology

authors： Hellwig K,Gold R

更新日期：2011-11-01 00:00:00

abstract：:In recent years, it has been widely recognised that modern doctors are not receiving the training they need to provide appropriate and effective palliative care. Deficiencies in care have been reported in several formal studies and, anecdotally, in many professional and popular lay publications. Doctors themselves hav...

journal_title：Journal of neurology

authors： Doyle D

更新日期：1997-10-01 00:00:00

abstract：:Diffusion tensor imaging (DTI) has become a useful tool for investigating early white matter (WM) abnormalities in motor neuron disease. Furthermore, fiber tracking packages that apply multi-tensorial algorithms, such as q-ball imaging (QBI), have been proposed as alternative approaches to overcome DTI limitations in ...

journal_title：Journal of neurology

authors： Caiazzo G,Corbo D,Trojsi F,Piccirillo G,Cirillo M,Monsurrò MR,Esposito F,Tedeschi G

更新日期：2014-01-01 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：:Sensory trick may relieve dystonic symptoms in patients with idiopathic cervical dystonia (CD). We investigated the patterns of brain functional MRI (fMRI) during resting state, sensory trick simulation and sensory trick imagination in CD patients both with and without an effective sensory trick. We recruited 17 CD pa...

journal_title：Journal of neurology

authors： Sarasso E,Agosta F,Piramide N,Bianchi F,Butera C,Gatti R,Amadio S,Del Carro U,Filippi M

更新日期：2020-04-01 00:00:00

abstract：:We evaluated the health economic burden of patients with Gilles de la Tourette's syndrome (GTS) in Germany over a 3-month observation period. Direct and indirect costs were evaluated in 200 outpatients with GTS (mean age 35 +/- 11.5 years) in Germany. Patients were recruited from three outpatient departments that spec...

journal_title：Journal of neurology

authors： Dodel I,Reese JP,Müller N,Münchau A,Balzer-Geldsetzer M,Wasem J,Oertel WH,Dodel R,Müller-Vahl K

更新日期：2010-07-01 00:00:00

abstract：:Cognitive features, which begin before manifestation of the motor features, are an integral part of Huntington's disease and profoundly affect quality of life. A number of neuropsychological batteries have been used to assess this aspect of the condition, many of which are difficult to administer and time consuming, e...

journal_title：Journal of neurology

authors： Begeti F,Tan AY,Cummins GA,Collins LM,Guzman NV,Mason SL,Barker RA

更新日期：2013-11-01 00:00:00

abstract：:The Euro-Esli study was an exploratory pooled analysis of data from 14 European clinical practice studies, which was conducted to audit the real-world effectiveness, safety, and tolerability of eslicarbazepine acetate (ESL) as an adjunctive treatment for partial-onset seizures. Retention and effectiveness were assesse...

journal_title：Journal of neurology

authors： Villanueva V,Holtkamp M,Delanty N,Rodriguez-Uranga J,McMurray R,Santagueda P

更新日期：2017-11-01 00:00:00

abstract：:Long-term treatment studies with any antiparkinsonian drug are rather limited. Especially, double-blind, randomized and multicenter studies do not exist except for some rare exceptions. Nonetheless, such studies are mandatory to prove certain therapy regimens. This overview reports on the comparison between dopamine a...

journal_title：Journal of neurology

authors： Reichmann H

更新日期：2000-09-01 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：:Magnetisation transfer (MT) imaging provides indirect information on tissue structure abnormalities in areas that otherwise may appear normal on conventional MRI. We determined the evolution of MT changes in normal appearing white matter (NAWM) and lesion on serial examination of 9 multiple sclerosis (MS) patients and...

journal_title：Journal of neurology

authors： Laule C,Vavasour IM,Whittall KP,Oger J,Paty DW,Li DK,MacKay AL,Arnold DL

更新日期：2003-08-01 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：:Familial paroxysmal exercise-induced dyskinesia (PED) is a rare movement disorder that is mostly caused by mutations in the solute carrier family 2, member 1 (SLC2A1) gene and inherited in an autosomal dominant manner. Clinical, laboratory, and genetic studies were performed in three family members. The proband's symp...

journal_title：Journal of neurology

authors： Tacik P,Loens S,Schrader C,Gayde-Stephan S,Biskup S,Dressler D

更新日期：2014-10-01 00:00:00

abstract：:Repetitive transcranial magnetic stimulation (rTMS) and intermittent theta-burst stimulation (iTBS) can be used to manage post-stroke spasticity, but a meta-analysis of the recent randomized-controlled trials (RCTs) is lacking. Our aim is to perform a meta-analysis of the RCTs that investigated the efficacy of rTMS in...

journal_title：Journal of neurology

authors： Xu P,Huang Y,Wang J,An X,Zhang T,Li Y,Zhang J,Wang B

更新日期：2020-07-11 00:00:00

abstract：:Autonomic dysfunction is frequently observed in patients with multiple sclerosis (MS), but clinical studies disagree on the frequency and type of abnormalities in autonomic function tests. Orthostatic dizziness (OD) has been reported in up to 49% of patients, but the pathophysiological mechanisms are poorly understood...

journal_title：Journal of neurology

authors： Flachenecker P,Wolf A,Krauser M,Hartung HP,Reiners K

更新日期：1999-07-01 00:00:00