ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

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：BACKGROUND:D-dimer levels are used in several clinical settings, such as in predicting venous thrombosis, cardioembolic stroke and cancer status. In the present study, we investigated the associations between plasma D-dimer levels at admission, clinical characteristics and mortality at discharge in cryptogenic stroke p...

journal_title：Journal of neurology

authors： Nezu T,Kitano T,Kubo S,Uemura J,Yamashita S,Iwanaga T,Inoue T,Hosomi N,Maruyama H,Matsumoto M,Kimura K,Yagita Y

更新日期：2018-03-01 00:00:00

abstract：:The emotional and relationship problems associated with MS have not always been fully appreciated by the medical profession, which has tended to concentrate on the physical aspects of this disease. Yet the psychological problems of MS often cause more suffering than physical effects. ...

journal_title：Journal of neurology

authors： Kesselring J,Klement U

更新日期：2001-03-01 00:00:00

abstract：BACKGROUND:Persistent postural perceptual dizziness (PPPD) is a common chronic condition presenting in neurology and neuro-otology clinics. Symptoms lie on a spectrum in the general population. The cause is unknown and thought to involve interactions between visual and vestibular systems, but symptoms also correlate wi...

journal_title：Journal of neurology

authors： Powell G,Derry-Sumner H,Shelton K,Rushton S,Hedge C,Rajenderkumar D,Sumner P

更新日期：2020-08-01 00:00:00

abstract：:Mutations in SCN2A cause epilepsy syndromes of variable severity including neonatal-infantile seizures. In one case, we previously described additional childhood-onset episodic ataxia. Here, we corroborate and detail the latter phenotype in three further cases. We describe the clinical characteristics, identify the ca...

journal_title：Journal of neurology

authors： Schwarz N,Hahn A,Bast T,Müller S,Löffler H,Maljevic S,Gaily E,Prehl I,Biskup S,Joensuu T,Lehesjoki AE,Neubauer BA,Lerche H,Hedrich UBS

更新日期：2016-02-01 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：:The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. In a sibship of six members we found two sisters with RRS together with baldness, impaired GH and PRL secretion after stimulation and different degrees of impair...

journal_title：Journal of neurology

authors： Franceschi M,Parmigiani F,Zamproni P,Cairoli G,Canal N

更新日期：1984-01-01 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：:Movement-associated cortical potentials (MP) associated with thumb-opposition or fist-clenching were studied in 20 patients with unilateral cerebral lesions and in 8 healthy subjects. MP was abnormal in 16 patients. The most frequent abnormality was an attenuation of the N component or readiness potential, recorded on...

journal_title：Journal of neurology

authors： Shibasaki H

更新日期：1975-07-02 00:00:00

abstract：OBJECTIVES:Evidences from either small series or spontaneous reporting are accumulating that SARS-CoV-2 involves the Nervous Systems. The aim of this study is to provide an extensive overview on the major neurological complications in a large cohort of COVID-19 patients. METHODS:Retrospective, observational analysis o...

journal_title：Journal of neurology

authors： Rifino N,Censori B,Agazzi E,Alimonti D,Bonito V,Camera G,Conti MZ,Foresti C,Frigeni B,Gerevini S,Grimoldi M,La Gioia S,Partziguian T,Quadri S,Riva R,Servalli MC,Sgarzi M,Storti B,Vedovello M,Venturelli E,Viganò M

更新日期：2020-10-07 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:Therapy of autoimmune diseases of the central and peripheral nervous system with intravenous IgG immunoglobulin (IVIg) is well established. Since IVIg is produced from pooled human plasma, autoantibodies can be found in IVIg products and, accordingly, in patient sera after transfusion. The de novo evidence o...

journal_title：Journal of neurology

authors： Grüter T,Ott A,Meyer W,Jarius S,Kinner M,Motte J,Pitarokoili K,Gold R,Komorowski L,Ayzenberg I

更新日期：2020-03-01 00:00:00

abstract：:A rare form of plasma cell dyscrasia characterized by associated polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes has been termed the POEMS syndrome. The pathophysiology is unknown; plasma cell dyscrasia is essential; secondary manifestations are unexplained. We report a 67-year-old man with a ...

journal_title：Journal of neurology

authors： Vidaković A,Simić P,Stojisavljević N,Elezović I,Trikić R,Apostolski S

更新日期：1992-01-01 00:00:00

abstract：INTRODUCTION:Patients with blepharospasm in addition to involuntary contraction of the orbicularis oculi muscle also have non-motor symptoms (psychiatric, sleep, cognitive, and ocular). In this paper, we investigated the relationship of non-motor with motor symptoms and the total burden of non-motor symptoms in patient...

journal_title：Journal of neurology

authors： Ferrazzano G,Berardelli I,Conte A,Baione V,Concolato C,Belvisi D,Fabbrini G,Defazio G,Berardelli A

更新日期：2019-11-01 00:00:00

abstract：:Three patients developed acute Guillain-Barré syndrome while on steroid treatment. The first patient suffered from ulcerative colitis and developed Guillain-Barré syndrome when the steroid dosage was being tapered. Another patient with long-standing multiple sclerosis received steroids during relapse and the Guillain-...

journal_title：Journal of neurology

authors： Steiner I,Wirguin I,Abramsky O

更新日期：1986-08-01 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

abstract：:REM sleep behavior disorder (RBD) is known to be observed more frequently in patients with an α-synucleinopathy such as Parkinson's disease (PD) than in the general population. The precise prevalence of RBD in Japanese PD patients is not known. Therefore, we investigated the prevalence and the clinical characteristics...

journal_title：Journal of neurology

authors： Nihei Y,Takahashi K,Koto A,Mihara B,Morita Y,Isozumi K,Ohta K,Muramatsu K,Gotoh J,Yamaguchi K,Tomita Y,Sato H,Seki M,Iwasawa S,Suzuki N

更新日期：2012-08-01 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：:An IgM antibody cytotoxic to normal human lymphocytes was found in 46.2% (male: 61.5%; female: 30.8%) of sera from chronic schizophrenics by means of a complement-dependent cytotoxicity test. The relationship between this antibody and the immunological manifestations of schizophrenia is discussed. ...

journal_title：Journal of neurology

authors： Kagami M,Koike T,Maruyama N,Takabayashi K,Tomioka H,Yoshida S,Kon Y

更新日期：1987-06-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Parkinson's disease (PD) is a neurodegenerative disorder characterized by deposition of intraneural inclusion bodies in the brain as well as the enteric nervous system. Emerging concepts regarding the brain-gut axis have been proposed for neurological disorders. Thus, the present study investigat...

journal_title：Journal of neurology

authors： Kim YJ,Lee CM,Kim S,Jang JW,Lee SY,Lee SH

更新日期：2020-02-01 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：:Although central facial paresis (CFP) is a major symptom of stroke, there is a lack of studies on the motor and non-motor disabilities in stroke patients. A prospective cohort study was performed at admission for inpatient rehabilitation and discharge of post-stroke phase of 112 patients (44% female, median age: 64 ye...

journal_title：Journal of neurology

authors： Volk GF,Steinerstauch A,Lorenz A,Modersohn L,Mothes O,Denzler J,Klingner CM,Hamzei F,Guntinas-Lichius O

更新日期：2019-01-01 00:00:00

abstract：OBJECTIVE:To quantify spinal cord atrophy and its impact on clinical disability in spinocerebellar ataxia (SCA) type 3 and 6. METHODS:Atrophy of the upper spinal cord was assessed by high resolution T1-weighted MRI of patients with SCA3 (n = 14) and SCA6 (n = 10). Furthermore, two groups of age- and sex-matched health...

journal_title：Journal of neurology

authors： Lukas C,Hahn HK,Bellenberg B,Hellwig K,Globas C,Schimrigk SK,Köster O,Schöls L

更新日期：2008-08-01 00:00:00

abstract：OBJECTIVE:Near occlusion (NO) of the internal carotid artery (ICA) with full collapse (NOFC) is a rare condition, with a prevalence of around 1%. Guidelines on carotid stenosis recommend a conservative treatment in patients with a single-event ipsilateral to a NOFC, but the optimal treatment for patients with recurrent...

journal_title：Journal of neurology

authors： Meershoek AJA,Vonken EPA,Nederkoorn PJ,Kappelle LJ,de Borst GJ

更新日期：2018-08-01 00:00:00

abstract：:Behçet's disease is a multisystem inflammatory disorder with unknown aetiology. It is a disease of young adults with a more severe course in males subjects. Its prevalence is high in the Mediterranean basin and Japan and has been linked with human leucocyte antigen B5 (HLA-B5) in those countries. According to the diag...

journal_title：Journal of neurology

authors： Serdaroğlu P

更新日期：1998-04-01 00:00:00

abstract：BACKGROUND:Alzheimer's disease (AD) leads to a degeneration of the nucleus basalis of Meynert and thus to decreased cholinergic tonus in the brain. The transcription of endothelial nitric oxide synthase depends on an adequate cholinergic innervation of microvessels and vasoregulative abnormalities have been reported in...

journal_title：Journal of neurology

authors： Rosengarten B,Paulsen S,Molnar S,Kaschel R,Gallhofer B,Kaps M

更新日期：2006-01-01 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：:Spastic paraplegia type 7 (SPG7) is an autosomal recessive form of hereditary spastic paraparesis (ARHSP) caused by mutations in paraplegin, a subunit of an ATP-dependent AAA-protease located within the inner mitochondrial membrane. We have identified a novel paraplegin mutation, c.1047insC, in a non-consanguineous No...

journal_title：Journal of neurology

authors： Tzoulis C,Denora PS,Santorelli FM,Bindoff LA

更新日期：2008-08-01 00:00:00

abstract：:Disability in multiple sclerosis (MS) patients is associated with white matter (WM) and gray matter (GM) pathology, and both processes contribute differently over the disease course. Total and regional GM volume loss can be imaged via voxel-based morphometry (VBM). Here, we retrospectively analyzed a group of 213 MS p...

journal_title：Journal of neurology

authors： Grothe M,Lotze M,Langner S,Dressel A

更新日期：2016-06-01 00:00:00

abstract：:We report the familial occurrence and apparent autosomal dominant inheritance of Sneddon's syndrome with variable clinical expression. The proband, a 40-year-old woman, presented with livedo reticularis and progressive neurological deterioration following a stroke. The diagnosis was confirmed by cerebral angiogram and...

journal_title：Journal of neurology

authors： Lossos A,Ben-Hur T,Ben-Nariah Z,Enk C,Gomori M,Soffer D

更新日期：1995-02-01 00:00:00