Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.

abstract：:Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.1909 + 22G > A) in the POLR3A gene. Here, we present ten new cases of POLR3A-related spastic ataxia and discuss the genetic, clinical and imaging findings. Patients belonged to six pedigrees with ...

journal_title：Journal of neurology

authors： Infante J,Serrano-Cárdenas KM,Corral-Juan M,Farré X,Sánchez I,de Lucas EM,García A,Martín-Gurpegui JL,Berciano J,Matilla-Dueñas A

更新日期：2020-02-01 00:00:00

abstract：:Freezing of gait (FOG) is a disabling motor symptom experienced by a large proportion of patients with Parkinson's disease (PD). While it is known that FOG contributes to lower health-related quality of life (HRQoL), previous studies have not accounted for other important factors when measuring the specific impact of ...

journal_title：Journal of neurology

authors： Walton CC,Shine JM,Hall JM,O'Callaghan C,Mowszowski L,Gilat M,Szeto JY,Naismith SL,Lewis SJ

更新日期：2015-01-01 00:00:00

abstract：:Neuromyelitis optica (NMO) is an uncommon, demyelinating disease that causes long-term disability in adults. Though much has recently been learned about its pathogenesis, there are still only a few studies regarding the epidemiology of NMO. The aim of the study was to describe the epidemiology of NMO among adults in t...

journal_title：Journal of neurology

authors： Jacob A,Panicker J,Lythgoe D,Elsone L,Mutch K,Wilson M,Das K,Boggild M

更新日期：2013-08-01 00:00:00

abstract：INTRODUCTION:Whether different mechanisms, particularly ocular pathology, could lead to the emergence of visual hallucinations (VH) (defined as false perceptions with no external stimulus) versus visual illusions (VI) (defined as a misperception of a real stimulus) in Parkinson's disease (PD) remains debated. We assess...

journal_title：Journal of neurology

authors： Marques A,Beze S,Pereira B,Chassain C,Monneyron N,Delaby L,Lambert C,Fontaine M,Derost P,Debilly B,Rieu I,Lewis SJG,Chiambaretta F,Durif F

更新日期：2020-10-01 00:00:00

abstract：:Although multiple sclerosis (MS) is considered to be an inflammatory demyelinating disease, increasing evidence indicates that it is also an axonal pathology; indeed, studies of experimental allergic encephalitis showed that several neuronal proteins such as synapsins take part in the pathogenesis of the axonal dysfun...

journal_title：Journal of neurology

authors： Liguori M,Cittadella R,Manna I,Valentino P,La Russa A,Serra P,Trojano M,Messina D,Ruscica F,Andreoli V,Romeo N,Livrea P,Quattrone A

更新日期：2004-02-01 00:00:00

abstract：OBJECTIVE:To determine the prevalence and risk factors for paroxysmal atrial fibrillation (PAF) diagnosis in non- cryptogenic ischemic stroke (CIS) patients. METHODS:In this pilot-prospective cohort study of non-CIS patients from September 2014 to September 2017, 53 patients were enrolled. 51/53 patients were implante...

journal_title：Journal of neurology

authors： Katz JM,Eng MS,Carrazco C,Patel AV,Jadonath R,Gribko M,Arora R,Libman RB

更新日期：2018-10-01 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：BACKGROUND:Classifying and diagnosing peripheral vestibular disorders based on their symptoms is challenging due to possible symptom overlap or atypical clinical presentation. To improve the diagnostic trajectory, gadolinium-based contrast-enhanced magnetic resonance imaging of the inner ear is nowadays frequently used...

journal_title：Journal of neurology

authors： van der Lubbe MFJA,Vaidyanathan A,Van Rompaey V,Postma AA,Bruintjes TD,Kimenai DM,Lambin P,van Hoof M,van de Berg R

更新日期：2020-12-01 00:00:00

abstract：OBJECTIVE:To report the clinical features and long-term outcome of 22 newly diagnosed paraneoplastic patients with GABAB receptor antibodies (GABABR-Abs). METHODS:Retrospective clinical study of CSF-confirmed cases of GABABR-Abs encephalitis. RESULTS:We identified 22 patients (4 female) with GABABR-Abs, with a median...

journal_title：Journal of neurology

authors： Maureille A,Fenouil T,Joubert B,Picard G,Rogemond V,Pinto AL,Thomas L,Ducray F,Quadrio I,Psimaras D,Berzero G,Antoine JC,Desestret V,Honnorat J

更新日期：2019-01-01 00:00:00

abstract：:In all the sera of four patients with meningoradiculitis of Bannwarth admitted to the neurological department of the University Clinic Grosshadern in Munich in 1983, we found antibodies against Ixodes dammini spirochetes. In three patients antibodies were also present in the CSF. In one patient, we isolated spirochete...

journal_title：Journal of neurology

authors： Pfister HW,Einhäupl K,Preac-Mursic V,Wilske B,Schierz G

更新日期：1984-01-01 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：:The Analog Model was developed for use in patients with multiple sclerosis (MS) at an international roundtable meeting in 2001. Three key disease components are monitored, namely relapses, disability progression and magnetic resonance imaging activity. Its use provides a rapid, straightforward means of assessing the e...

journal_title：Journal of neurology

authors： Sharief MK

更新日期：2004-09-01 00:00:00

abstract：:The SOX10 transcription factor is involved in development of neural crest derivatives and fate determination in glial cells. SOX10 mutations have been found in patients with intestinal aganglionosis and depigmentation with deafness (Waardenburg-Hirschsprung). Associated neurological signs have been reported in some ca...

journal_title：Journal of neurology

authors： Pingault V,Bondurand N,Le Caignec C,Tardieu S,Lemort N,Dubourg O,Le Guern E,Goossens M,Boespflug-Tanguy O,Clinical E.N.B.D.D. Clinical European Network on Brain Dysmyelinating Disease.

更新日期：2001-06-01 00:00:00

abstract：OBJECTIVE:To assess the overlap of and differences between quantitative muscle MRI and ultrasound in characterizing structural changes in leg muscles of facioscapulohumeral muscular dystrophy (FSHD) patients. METHODS:We performed quantitative MRI and quantitative ultrasound of ten leg muscles in 27 FSHD patients and a...

journal_title：Journal of neurology

authors： Mul K,Horlings CGC,Vincenten SCC,Voermans NC,van Engelen BGM,van Alfen N

更新日期：2018-11-01 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：:This short review summarizes epilepsy papers published in the Journal of Neurology in 2009, covering pathophysiology (inflammation; propagation pathways), new treatments (oxcarbazepine in paediatrics; levetiracetam in status epilepticus), and non-seizure outcomes (violence; foetal/pregnancy). ...

journal_title：Journal of neurology

authors： Lozsadi DA,Von Oertzen J,Cock HR

更新日期：2010-11-01 00:00:00

abstract：:We describe three patients with unilateral asterixis. One diabetic patient with a moderately-sized haematoma in the left putamen initially developed bilateral and symmetrical asterixis, which became confined to the right side as his diabetes mellitus was controlled. Two patients showed unilateral asterixis due to haem...

journal_title：Journal of neurology

authors： Mizutani T,Shiozawa R,Nozawa T,Nozawa Y

更新日期：1990-12-01 00:00:00

abstract：:We describe the case of a 40-year-old male patient who had presented clinically as primary lateral sclerosis for the past 10 years and neuropathologically as diffuse Lewy body disease (DLBD). Neuropathology demonstrated DLBD as an almost ubiquitous disorder of the neuronal cytoskeleton. ...

journal_title：Journal of neurology

authors： Hainfellner JA,Pilz P,Lassmann H,Ladurner G,Budka H

更新日期：1995-01-01 00:00:00

abstract：:Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy and usually follows an autosomal dominant trait. Clinically, FSHD affects facial muscles and proximal upper limb and girdle muscles, but may present with variable clinical phenotypes even within the same family. Most genetically ...

journal_title：Journal of neurology

authors： Reilich P,Schramm N,Schoser B,Schneiderat P,Strigl-Pill N,Müller-Höcker J,Kress W,Ferbert A,Rudnik-Schöneborn S,Noth J,Lochmüller H,Weis J,Walter MC

更新日期：2010-07-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Dysphagia is estimated to occur in up to 50% of the stroke neurorehabilitation population. Those patients with severe neurogenic oropharyngeal dysphagia (NOD) may receive feeding gastrostomy tubes (FGT) if noninvasive therapies prove ineffective in eliminating aspiration or sustaining adequate nu...

journal_title：Journal of neurology

authors： Ickenstein GW,Stein J,Ambrosi D,Goldstein R,Horn M,Bogdahn U

更新日期：2005-12-01 00:00:00

abstract：:Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN) are the major immune neuropathies. Although a detailed understanding of the pathogenesis of these conditions is not yet available, the multiple effects of IVIg on the immune and inflamm...

journal_title：Journal of neurology

authors： Hughes R

更新日期：2008-07-01 00:00:00

abstract：:The finding of a mutation in the alpha-synuclein gene in a rare autosomal dominant form of idiopathic Parkinson's disease (IPD), has prompted increased interest in identifying genes that account for the more common sporadic form. A number of association studies have suggested that functional polymorphisms in genes tha...

journal_title：Journal of neurology

authors： Bajaj NP,Shaw C,Warner T,RayChaudhuri K

更新日期：1998-10-01 00:00:00

abstract：:Rodent oligodendrocytes have a unique susceptibility among glia to the lytic effects of complement, due in part to a deficiency in CD59 (protectin), a key surface inhibitor of the complement membrane attack complex (MAC). The possibility that shedding of CD59 by human oligodendrocytes contributes to complement-mediate...

journal_title：Journal of neurology

authors： Roddy J,Clark I,Hazleman BL,Compston DA,Scolding NJ

更新日期：1994-08-01 00:00:00

abstract：BACKGROUND:The nonischemic forearm exercise test (NIFET) has been shown to be as effective as the classic ischemic forearm exercise test (IFET) in the diagnosis of patients with McArdle disease. Recently, the lactate increase normalized to the mechanical energy production in NIFET was suggested to have a intermediate s...

journal_title：Journal of neurology

authors： Hanisch F,Eger K,Bork S,Lehnich H,Deschauer M,Zierz S

更新日期：2006-06-01 00:00:00

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：:Two unusual cases of cerebral toxoplasmosis in AIDS patients are presented. Two homosexual males aged 33 and 52 years in CDC stage IV C1 complained of memory loss during the past 6 months, as well as weight loss and mild fever. They showed severe intellectual deterioration and discrete basal ganglia dysfunction. Motor...

journal_title：Journal of neurology

authors： Arendt G,Hefter H,Figge C,Neuen-Jakob E,Nelles HW,Elsing C,Freund HJ

更新日期：1991-12-01 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：:To disclose the neuropathological progression course of Machado-Joseph disease (MJD), magnetic resonance imaging (MRI) findings of six genetically confirmed MJD cases (four males and two females, including an autopsied female, all unrelated to one another) were further investigated on neurodegeneration. Brain MRI stud...

journal_title：Journal of neurology

authors： Horimoto Y,Matsumoto M,Akatsu H,Kojima A,Yoshida M,Nokura K,Yuasa H,Katada E,Yamamoto T,Kosaka K,Hashizume Y,Yamamoto H,Mitake S

更新日期：2011-09-01 00:00:00

abstract：:The goal of this study is to define the clinical features, pathogenesis and key investigation findings of fasciculation anxiety syndrome in clinicians (FASICS). Twenty consecutive clinicians presenting with fasciculations were prospectively assessed with serial clinical and neurophysiological evaluations. Clinicians w...

journal_title：Journal of neurology

authors： Simon NG,Kiernan MC

更新日期：2013-07-01 00:00:00

abstract：:Fatigue is a common and frequently disabling symptom of multiple sclerosis (MS). The aim of this study was to develop the Fatigue index Kliniken Schmieder (FKS) for detecting motor fatigue in patients with MS using kinematic gait analysis. The FKS relies on the chaos theoretical term "attractor", which, if unchanged, ...

journal_title：Journal of neurology

authors： Sehle A,Vieten M,Sailer S,Mündermann A,Dettmers C

更新日期：2014-09-01 00:00:00