POLR3A-related spastic ataxia: new mutations and a look into the phenotype.

abstract：PURPOSE:Anti-myelin oligodendrocyte glycoprotein antibodies (anti-MOG), directed against a component of the myelin sheath, are sometimes detected in the blood or cerebrospinal fluid (CSF) of patients with acute demyelinating conditions. Cortical encephalitic presentations in anti-MOG-antibody-positive patients are reco...

journal_title：Journal of neurology

authors： Doig D,McNamara C,Mewasingh L,Beri S,Jones B,Kachramanoglou C,Jan W

更新日期：2020-10-14 00:00:00

abstract：:In vivo nuclear magnetic resonance spectroscopy (MRS) of the human brain is a recently developed technique which allows to assay noninvasively in vivo key molecules of brain metabolism. After a review of the origin of the signals detected by phosphorus and proton MRS of human brain, the impact of MRS on clinical neuro...

journal_title：Journal of neurology

authors： Vion-Dury J,Meyerhoff DJ,Cozzone PJ,Weiner MW

更新日期：1994-05-01 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：: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：:Histopathological and magnetic resonance imaging (MRI) studies have shown white matter (WM) damage in early stages of multiple sclerosis (MS) beyond the apparent T2-hyperintense lesions. These changes in normal appearing WM (NAWM) are important with regard to the clinical picture and prognosis. However, the detection ...

journal_title：Journal of neurology

authors： Beer A,Biberacher V,Schmidt P,Righart R,Buck D,Berthele A,Kirschke J,Zimmer C,Hemmer B,Mühlau M

更新日期：2016-08-01 00:00:00

abstract：:Postpartum lower limb motor and/or sensory deficit is an uncommon obstetrical complication. We aimed to identify its incidence, etiology, and precipitating factors, as well as the neurological prognosis by retrospectively analyzing the successive neurological evaluations, electrophysiological, and MRI data from all th...

journal_title：Journal of neurology

authors： Richard A,Vellieux G,Abbou S,Benifla JL,Lozeron P,Kubis N

更新日期：2017-03-01 00:00:00

abstract：:We have investigated how the abnormal head posture and motility in spasmodic torticollis interferes with ecological movements such as combined eye-to-foot whole-body reorientations to visual targets. Eight mildly affected patients and 10 controls voluntarily rotated eyes and body in response to illuminated targets of ...

journal_title：Journal of neurology

authors： Anastasopoulos D,Ziavra N,Pearce R,Bronstein AM

更新日期：2013-08-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to investigate the relationship between type II diabetes mellitus (T2DM) and ALS incidence using the National Health Insurance Research Database and Serious Disabling Disease database of Taiwan. METHODS:This was a population-based cohort study. The index date was the date of the fir...

journal_title：Journal of neurology

authors： Tsai CP,Lee JK,Lee CT

更新日期：2019-09-01 00:00:00

abstract：PURPOSE:Epileptogenic foci exhibit disturbed function at the level of the benzodiazepine receptor. The aim of our study was to investigate the incidence of focal reductions of temporal benzodiazepine receptor binding (BRB) as assessed by scintigraphy with 123I-iomazenil in patients with denovo temporal lobe epilepsy (T...

journal_title：Journal of neurology

authors： Matheja P,Lüdemann P,Kuwert T,Weckesser M,Kellinghaus C,Weitemeyer L,Diehl B,Schuierer G,Ringelstein EB,Schober O

更新日期：2001-07-01 00:00:00

abstract：:Evaluating freezing of gait (FOG) and quantifying its severity in patients with Parkinson's disease (PD) is challenging; objective assessment is not sufficiently established. We aimed to improve the ability to objectively evaluate FOG severity by investigating the value of measuring the duration of the test and its co...

journal_title：Journal of neurology

authors： Herman T,Dagan M,Shema-Shiratzky S,Reches T,Brozgol M,Giladi N,Manor B,Hausdorff JM

更新日期：2020-09-01 00:00:00

abstract：:The purpose of this study is to monitor the development of anti-natalizumab antibodies to evaluate their first appearance in multiple sclerosis patients, since their presence has been associated with a reduction in the efficacy of the treatment and an increase of adverse events. A total of 134 multiple sclerosis patie...

journal_title：Journal of neurology

authors： Oliver-Martos B,Órpez-Zafra T,Urbaneja P,Maldonado-Sanchez R,Leyva L,Fernández O

更新日期：2013-09-01 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：:A 57-year-old male was repeatedly admitted to hospital because of complex neurological symptoms, including radicular pain, disturbance of micturition, seizures, and severely impaired mental state. The diagnosis was encephalomyeloradiculitis possibly of viral origin, and treatment with immunosuppressants was initiated....

journal_title：Journal of neurology

authors： Kollikowski HH,Schwendemann G,Schulz M,Wilhelm H,Lehmann HJ

更新日期：1988-01-01 00:00:00

abstract：:We report two cases of unilateral spatial neglect associated with an isolated right frontal lobe lesion. Case 1 was a 59-year-old, right-handed man, who developed a left hemiplegia, disorientation, and frontal lobe neglect associated with a haemorrhagic contusion following a head injury. Case 2 was a 55-year-old, righ...

journal_title：Journal of neurology

authors： Maeshima S,Terada T,Nakai K,Nishibayashi H,Ozaki F,Itakura T,Komai N

更新日期：1995-10-01 00:00:00

abstract：:Acute relapses of multiple sclerosis (MS) are treated with intravenous methylprednisolone (IVMP), which speeds recovery from exacerbation. It is known that IVMP suppresses the immunological activation which occurs during an acute attack of MS. However, the specific target genes affected by this therapy remain obscure....

journal_title：Journal of neurology

authors： Airla N,Luomala M,Elovaara I,Kettunen E,Knuutila S,Lehtimäki T

更新日期：2004-10-01 00:00:00

abstract：:Three cases of Fahr's syndrome are described. All patients had disturbances of calcium metabolism and had had a meningoencephalitis in childhood. It is suggested that gliovascular changes, induced by cerebral inflammation, can later facilitate the occurrence of calcification of the striopallidodentate system when abno...

journal_title：Journal of neurology

authors： Morgante L,Vita G,Meduri M,Di Rosa AE,Galatioto S,Coraci MA,Di Perri R

更新日期：1986-02-01 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：: ...

journal_title：Journal of neurology

authors： Hu M,Corkill R

更新日期：2019-03-01 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：:The long-duration response (LDR) to levodopa is an important component of the therapeutic response to the drug in Parkinson's disease (PD). Some characteristics are peculiar: it is independent from peripheral pharmacokinetics of levodopa, but it is dependent on the intervals between doses and on the size of each dose....

journal_title：Journal of neurology

authors： Zappia M,Nicoletti A

更新日期：2010-11-01 00:00:00

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：: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：:The number of dementia patients requesting euthanasia in the Netherlands has increased over the past five years. The issue is highly controversial. In this contribution we discuss some of the main arguments: the nature of suffering, the voluntariness of the request and the role of the physician. We argue that society ...

journal_title：Journal of neurology

authors： de Beaufort ID,van de Vathorst S

更新日期：2016-07-01 00:00:00

abstract：:Neuromyelitis optica (NMO) is an inflammatory/demyelinating disorder predominantly affecting the optic nerves and spinal cord. Recent findings showed an underlying humoral abnormality in NMO, characterized by a serum antibody against aquaporin-4 (Aqp-4-Ab). In this study, we evaluated the Aqp-4-Ab status among Turkish...

journal_title：Journal of neurology

authors： Akman-Demir G,Tüzün E,Waters P,Içöz S,Kürtüncü M,Jarius S,Yapıcı Z,Mutlu M,Yeşilot N,Vincent A,Eraksoy M

更新日期：2011-03-01 00:00:00

abstract：:Multiple sclerosis (MS), a chronic inflammatory disorder of the central nervous system (CNS), 2 results in damage to axons and their surrounding myelin sheath. The exact cause of inflammation remains unclear, but an autoimmune response directed against CNS antigens is suspected. MS can affect the brain, optic nerve an...

journal_title：Journal of neurology

authors： Hartung HP,Bar-Or A,Zoukos Y

更新日期：2004-09-01 00:00:00

abstract：BACKGROUND:Cognitive impairment is a debilitating symptom experienced by ~ 50% of multiple sclerosis patients, with processing speed (PS) and memory most affected. Until now, the field has considered cognition in a binary fashion: patients are designated as impaired or not impaired. This designation is typically arrive...

journal_title：Journal of neurology

authors： Leavitt VM,Tosto G,Riley CS

更新日期：2018-03-01 00:00:00

abstract：:Oxidative stress is involved in the pathogenesis of multiple system atrophy (MSA). Uric acid has an antioxidative effect. Our aim is to clarify the correlations between serum uric acid and MSA in Chinese population. A total of 234 patients with probable MSA and 240 age- and gender- matched healthy controls were includ...

journal_title：Journal of neurology

authors： Cao B,Guo X,Chen K,Song W,Huang R,Wei QQ,Zhao B,Shang HF

更新日期：2013-10-01 00:00:00

abstract：OBJECTIVES:The aim of this study was to identify clinical, magnetic resonance imaging (MRI) and biological markers predictive of long-term clinical response to interferon beta (IFN beta) therapy in patients with relapsing-remitting multiple sclerosis (RRMS). METHODS:Sixty-eight patients treated with IFN beta were foll...

journal_title：Journal of neurology

authors： Tomassini V,Paolillo A,Russo P,Giugni E,Prosperini L,Gasperini C,Antonelli G,Bastianello S,Pozzilli C

更新日期：2006-03-01 00:00:00

abstract：:The prevalence of clinical and electrophysiological signs of peripheral nerve disease was evaluated in 151 patients with chronic obstructive pulmonary disease. Patients with concomitant disorders affecting the peripheral nervous system were excluded. Thirty patients had clinical signs of a mild sensorimotor and distal...

journal_title：Journal of neurology

authors： Pfeiffer G,Kunze K,Brüch M,Kutzner M,Ladurner G,Malin JP,Tackmann W

更新日期：1990-07-01 00:00:00

abstract：:A man, aged 63, had an illness which lasted 11 months from onset with pain under the left costal margin which radiated to the epigastrium, until his death from cardiac failure. His symptoms consisted principally of parasthesias and proximal weakness of both upper and lower extremities with atrophy of the shoulder and ...

journal_title：Journal of neurology

authors： Zangemeister WH,Schwendemann G,Colmant HJ

更新日期：1978-04-14 00:00:00