Intrafamilial heterogeneity of movement disorders: report of three cases in one family.

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：UNLABELLED:To systematically and comprehensively describe functioning and disability in Multiple sclerosis (MS), practical tools based on the International Classification of Functioning, Disability and Health (ICF), such as ICF Core Sets, are needed. OBJECTIVE:To report on the results of an evidence-based Internationa...

journal_title：Journal of neurology

authors： Coenen M,Cieza A,Freeman J,Khan F,Miller D,Weise A,Kesselring J,Members of the Consensus Conference.

更新日期：2011-08-01 00:00:00

abstract：:We report the effects of intravenous gamma-globulin (IVGG) in severe Guillain-Barré syndrome (GBS) in a small open study. Seven patients were given IVGG (0.4 g/kg/day) for 5 consecutive days. At the start of treatment all had progressing limb weakness and none could stand unaided. Within 24 h all but one patient start...

journal_title：Journal of neurology

authors： Jackson MC,Godwin-Austen RB,Whiteley AM

更新日期：1993-01-01 00:00:00

abstract：:The recent discovery of disease specific and pathogenic autoantibodies in neuromyelitis optica (NMO, Devic's disease) has revived the interest in this intriguing yet often devastating condition. While the history of classic multiple sclerosis has been studied extensively, only very little is known so far about the ear...

journal_title：Journal of neurology

authors： Jarius S,Wildemann B

更新日期：2012-07-01 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：BACKGROUND:Glatiramer acetate (GA) therapy following brief, low-dose induction with mitoxantrone was safe and more effective than GA alone in suppressing inflammatory disease activity, as determined by a significant reduction in gadolinium (Gd)- enhancing MRI lesions, in a 15- month, randomized, single-blind study of r...

journal_title：Journal of neurology

authors： Arnold DL,Campagnolo D,Panitch H,Bar-Or A,Dunn J,Freedman MS,Gazda SK,Vollmer T

更新日期：2008-10-01 00:00:00

abstract：:Although post-stroke emotional incontinence (EI) often occurs after lenticulocapsular strokes, what factors determine the development of EI in these patients has not been identified. I prospectively studied the development of EI in 25 patients (13 men and 12 women, mean age 58.5 years) with single, unilateral, first-e...

journal_title：Journal of neurology

authors： Kim JS

更新日期：2002-07-01 00:00:00

abstract：:Inborn errors of metabolism in 40 children have been investigated by computed tomography to obtain data on the degree of cerebral involvement in neurodegenerative and storage disorders: 20 children had various mucopolysaccharidoses, 8 sphingolipidoses , 3 mucolipidoses, 2 oligosaccharidoses , 3 ceroidlipofuscinoses an...

journal_title：Journal of neurology

authors： Wende S,Ludwig B,Kishikawa T,Rochel M,Gehler J

更新日期：1984-01-01 00:00:00

abstract：OBJECTIVE:Crossed aphasia (CA), usually referred to as an acquired language disturbance, is caused by a lesion in the cerebral hemisphere ipsilateral to the dominant hand, and the exact mechanism is not clear. The development of handedness is influenced by education and training and the impact of habitualization, while...

journal_title：Journal of neurology

authors： Tan X,Guo Y,Dun S,Sun H

更新日期：2018-07-01 00:00:00

abstract：:Tibial muscular dystrophy (TMD) or Udd myopathy is an autosomal dominant distal myopathy with late onset, at first described in the Finnish population. We report here the first Italian cases of TTN mutated titinopathy. The proband, a 60 year-old female, had the first muscular signs at the age of 59 years, with difficu...

journal_title：Journal of neurology

authors： Pollazzon M,Suominen T,Penttilä S,Malandrini A,Carluccio MA,Mondelli M,Marozza A,Federico A,Renieri A,Hackman P,Dotti MT,Udd B

更新日期：2010-04-01 00:00:00

abstract：:An 8-year-old boy with galactose-1-phosphate uridyl transferase (GALT) deficiency presented with hypotonia, muscle hypotrophy, hepatomegaly, bilateral cataract and mild mental retardation. Two brothers showed a GALT activity consistent with a homozygotic condition and both parents were found to be heterozygotes for th...

journal_title：Journal of neurology

authors： Bresolin N,Comi GP,Fortunato F,Meola G,Gallanti A,Tajana A,Velicogna M,Gonano EF,Ninfali P,Pifferi S

更新日期：1993-05-01 00:00:00

abstract：:The objective of this study was to investigate cognitive dysfunction in 24-60-year-old neuromyelitis optica (NMO) patients, demographically matched healthy subjects, and MS patients. We conducted a comprehensive literature review of the PubMed, Medline, EMBASE, CNKI, Wan Fang Date, Web of Science, and Cochrane Library...

journal_title：Journal of neurology

authors： Meng H,Xu J,Pan C,Cheng J,Hu Y,Hong Y,Shen Y,Dai H

更新日期：2017-08-01 00:00:00

abstract：:Disturbances of balance, gait and posture are a hallmark of parkinsonian syndromes. Recognition of these axial features can provide important and often early clues to the nature of the underlying disorder, and, therefore, help to disentangle Parkinson's disease from vascular parkinsonism and various forms of atypical ...

journal_title：Journal of neurology

authors： Raccagni C,Nonnekes J,Bloem BR,Peball M,Boehme C,Seppi K,Wenning GK

更新日期：2020-11-01 00:00:00

abstract：:Mitochondrial diseases are due to impairment of the mitochondrial respiratory chain. A plausible pathogenic mechanism leading to cellular dysfunction and phenotypic expression is oxidative stress, but there are surprisingly few clinical studies on this subject. Glutathione (GSH) deficiency has been reported in mitocho...

journal_title：Journal of neurology

authors： Mancuso M,Orsucci D,Logerfo A,Rocchi A,Petrozzi L,Nesti C,Galetta F,Santoro G,Murri L,Siciliano G

更新日期：2010-05-01 00:00:00

abstract：:The greatest unmet need in multiple sclerosis (MS) are treatments that delay, prevent or reverse progression. One of the most tractable strategies to achieve this is to therapeutically enhance endogenous remyelination; doing so restores nerve conduction and prevents neurodegeneration. The biology of remyelination-cent...

journal_title：Journal of neurology

authors： Cunniffe N,Coles A

更新日期：2021-01-01 00:00:00

abstract：BACKGROUND AND AIMS:The association between multiple sclerosis (MS) and depression has been well established but prevalence estimates have varied widely. The aims of this study were to assess the point prevalence of previously unrecognised symptoms of depression in a community-based population with MS and examine their...

journal_title：Journal of neurology

authors： McGuigan C,Hutchinson M

更新日期：2006-02-01 00:00:00

abstract：:Parvalbumin (a calcium-binding protein)-immunoreactive (PV-Ir) neurons in the cerebral cortex were examined in 20 postmortem brains obtained from elderly controls and patients with Pick's disease (PD). The type of PV-Ir neurons and their distribution in control and PD brains were similar. The number of PV-Ir neurons i...

journal_title：Journal of neurology

authors： Arai H,Noguchi I,Makino Y,Kosaka K,Heizmann CW,Iizuka R

更新日期：1991-07-01 00:00:00

abstract：:Little is known about the relationship between cognitive dysfunctions and the non-motor complex in subjects with newly diagnosed untreated Parkinson's disease (PD). The aim of this study was to explore the association between non-motor symptoms (NMS) and cognitive dysfunctions in an incident cohort of de novo, drug-na...

journal_title：Journal of neurology

authors： Erro R,Santangelo G,Picillo M,Vitale C,Amboni M,Longo K,Costagliola A,Pellecchia MT,Allocca R,De Rosa A,De Michele G,Santoro L,Barone P

更新日期：2012-09-01 00:00:00

abstract：:The electrically elicited blink reflex was investigated in 25 patients with ischaemic lesions of the pons or the medulla oblongata. Only patients with a lesion on MRI appropriate to the clinical syndrome were included. Twenty patients had an infarction of the pons, bilateral in 5. Additional 5 patients had an infarcti...

journal_title：Journal of neurology

authors： Meincke U,Ferbert A

更新日期：1993-11-01 00:00:00

abstract：:Multiple Sclerosis (MS) is an inflammatory disease of the Central Nervous System with multifocal areas of demyelination. Although its etiology and pathogenesis remain controversial, several lines of evidence indicate that MS is mediated by a misdirected immune response against one or several myelin proteins. The invol...

journal_title：Journal of neurology

authors： Correale J,de los Milagros Bassani Molinas M

更新日期：2002-04-01 00:00:00

abstract：BACKGROUND:Elective programs for medical students in the last year of their university training are poorly evaluated. The goal of this study was to determine the gain in theoretical and practical skills in a group of students during their elective in neurology. Students were trained by either conventional teaching meth...

journal_title：Journal of neurology

authors： Heckmann JG,Bleh C,Dütsch M,Lang CJ,Neundörfer B

更新日期：2003-12-01 00:00:00

abstract：:Cerebellar dysfunction is an important contributor to disability in patients with multiple sclerosis (MS), however, few in vivo studies focused on cerebellar volume loss so far. This relates to technical challenges regarding the segmentation of the cerebellum. In this study, we evaluated the semi-automatic ECCET softw...

journal_title：Journal of neurology

authors： Weier K,Beck A,Magon S,Amann M,Naegelin Y,Penner IK,Thürling M,Aurich V,Derfuss T,Radue EW,Stippich C,Kappos L,Timmann D,Sprenger T

更新日期：2012-12-01 00:00:00

abstract：:The experience of music is difficult to study objectively. Here we describe a detailed analysis of musical hallucinations developing after a probable brainstem stroke in an 83 year old musician who was able to describe and notate the hallucinations. The hallucinations comprised simple, repetitive melodic and rhythmic ...

journal_title：Journal of neurology

authors： Warren JD,Schott GD

更新日期：2006-08-01 00:00:00

abstract：:A total of 21 patients with normal-pressure hydrocephalus were examined. Cerebrospinal fluid (CSF) was collected before and after operation with a ventriculoperitoneal shunt. A slight plasma-like protein pattern indicating a blood-brain barrier (BBB) dysfunction was seen in 38% of the patients before operation. No cha...

journal_title：Journal of neurology

authors： Wikkelsø C,Blomstrand C

更新日期：1982-01-01 00:00:00

abstract：BACKGROUND:Anti-epileptic drug (AED) prophylaxis in the first-seven days post-traumatic brain injury (TBI) is known to reduce seizure frequency acutely. AED efficacy is equivalent; therefore, choice of AED may rest with their side-effects. We hypothesise that AEDs that impair balance will prolong recovery, shown by a l...

journal_title：Journal of neurology

authors： Harris L,Hateley S,Tsang KT,Wilson M,Seemungal BM

更新日期：2020-06-01 00:00:00

abstract：:Based on the observation of bilateral temporoparietal hypoperfusion in Alzheimer's disease (AD), single photon emission computed tomography (SPECT) is advocated by some as a powerful diagnostic tool in the evaluation of demented patients. We studied whether routine brain SPECT in elderly, mildly demented outpatients i...

journal_title：Journal of neurology

authors： Van Gool WA,Walstra GJ,Teunisse S,Van der Zant FM,Weinstein HC,Van Royen EA

更新日期：1995-06-01 00:00:00

abstract：:Neuropsychological deficits and the relationship to brain pathology were examined in 13 primary progressive (PP) and 12 secondary progressive (SP) multiple sclerosis patients with a similar duration of the progressive phase and comparable physical disability. A battery of neuropsychological tests to assess attention, ...

journal_title：Journal of neurology

authors： Foong J,Rozewicz L,Chong WK,Thompson AJ,Miller DH,Ron MA

更新日期：2000-02-01 00:00:00

abstract：:Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreic...

journal_title：Journal of neurology

authors： Panas M,Kalfakis N,Karadima G,Davaki P,Vassilopoulos D

更新日期：2002-11-01 00:00:00

abstract：:In contrast to the distal sensory response, the somatosensory evoked response (SSER) is detectable in patients with A-alpha sensory fiber diseases such as Friedreich's ataxia. In four patients with this disease a combined histological and electro-physiological investigation of sensory propagation was performed. The su...

journal_title：Journal of neurology

authors： Colon E,Joosten E,de Weerd J

更新日期：1978-12-22 00:00:00

abstract：:Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy with heterogeneous clinical presentation and genetic background. The axonal form (CMT2) is characterised by decreased action potentials indicating primary axonal damage. The underlying pathology involves axonal degeneration which is supposed to ...

journal_title：Journal of neurology

authors： Bansagi B,Antoniadi T,Burton-Jones S,Murphy SM,McHugh J,Alexander M,Wells R,Davies J,Hilton-Jones D,Lochmüller H,Chinnery P,Horvath R

更新日期：2015-08-01 00:00:00