L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family.

abstract：OBJECTIVE:In order to define the predictors of prolonged survival available at the time of first examination we performed a historical cohort study of amyotrophis sclerosis (ALS) patients referred to our ALS Clinic over the last 20 years. METHODS:In a group of 1034 patients with the diagnosis of definite or probable A...

journal_title：Journal of neurology

authors： Czaplinski A,Yen AA,Appel SH

更新日期：2006-11-01 00:00:00

abstract：OBJECTIVES:Sporadic (SSP) and hereditary spastic paraplegias (HSP) are clinically and genetically heterogeneous disorders, which are characterised by a slowly progressive spastic paraparesis. Initial symptoms and the rate of progression are variable even among members of the same family. Spastic paraparesis is the majo...

journal_title：Journal of neurology

authors： Klebe S,Stolze H,Kopper F,Lorenz D,Wenzelburger R,Volkmann J,Porschke H,Deuschl G

更新日期：2004-05-01 00:00:00

abstract：BACKGROUND:Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel...

journal_title：Journal of neurology

authors： Salvalaggio A,Coraci D,Cacciavillani M,Obici L,Mazzeo A,Luigetti M,Pastorelli F,Grandis M,Cavallaro T,Bisogni G,Lozza A,Gemelli C,Gentile L,Ermani M,Fabrizi GM,Plasmati R,Campagnolo M,Castellani F,Gasparotti R,Marti

更新日期：2021-01-01 00:00:00

abstract：:A consecutive series of 327 patients (188 males, 139 females; mean age 68.4, SEM 1.33) were hospitalized within 12 h of the onset of their first-ever hemispheric infarct. Three groups of patients were identified: diabetics (n = 70), non-diabetic hyperglycaemics (n = 93) and normoglycaemics (n = 164). Case-fatality rat...

journal_title：Journal of neurology

authors： Toni D,Sacchetti ML,Argentino C,Gentile M,Cavalletti C,Frontoni M,Fieschi C

更新日期：1992-08-01 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：:Little is known about the pattern of subacute cognitive domain impairments after ischaemic stroke, nor the temporal evolution of such impairments. Our objective was to investigate the pattern of cognitive impairment in different neuropsychological domains up to a year after ischaemic stroke. We included prospectively ...

journal_title：Journal of neurology

authors： Hurford R,Charidimou A,Fox Z,Cipolotti L,Werring DJ

更新日期：2013-01-01 00:00:00

abstract：:Secondary worsening of stroke symptoms is described in 13-37% of stroke patients, but the exact mechanism of this phenomenon remains unclear. The aim of this study is to find prognostic variables in correlation to secondary worsening of stroke symptoms in patients with lacunar or cortical strokes. In this prospective ...

journal_title：Journal of neurology

authors： Schweitzer JR,Koehler PJ,Voogd AC,Franke CL

更新日期：2010-09-01 00:00:00

abstract：:Normal pressure hydrocephalus (NPH) is characterised by gait disturbance, urinary incontinence and dementia. Even though dementia is a cardinal symptom of NPH, there is few data available concerning cognitive functioning. The aim of this observational case-control study was to evaluate the use of neuropsychological (N...

journal_title：Journal of neurology

authors： Schmidt H,Elster J,Eckert I,Wiefek J,Paulus W,von Steinbuechel N,Abatih EN,Blocher J

更新日期：2014-12-01 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：:The effect of local cooling was studied in 28 patients with myastenia gravis. We stimulated the ulnar nerve with single stimuli and trains at 3/s for 2s and at 50/s for 1.5 s. The compound muscle action potential (MAP), the muscle twitch and the isometric tetanic force of the adductor pollicis were registered. 1. At 3...

journal_title：Journal of neurology

authors： Ricker K,Hertel G,Stodieck S

更新日期：1977-11-01 00:00:00

abstract：:The last 5 years have seen rapid progress in Parkinson’s disease (PD) genetics, with the publication of a series of large-scale genome wide association studies for PD, and evaluation of the roles of the LRRK2 and GBA genes in the aetiology of PD. We are beginning to develop a coherent picture of the interplay of Mende...

journal_title：Journal of neurology

authors： Lubbe S,Morris HR

更新日期：2014-02-01 00:00:00

abstract：:Peduncular hallucinosis (PH) is a syndrome of hallucinations and brainstem symptoms which has only been described in single case reports. A detailed analysis of five patients was undertaken to investigate the clincial characteristics, hallucinations and behavioural abnormalities of PH in greater detail. Frequent clini...

journal_title：Journal of neurology

authors： Benke T

更新日期：2006-12-01 00:00:00

abstract：:The problem of consciousness is discussed briefly, including the contrary views of consciousness as a transcendental phenomenon and as an animistic fiction. Measurement of consciousness is possible only indirectly by means of quantitative assessment of accompanying behavioral deficits. Knowledge of the structural basi...

journal_title：Journal of neurology

authors： von Cramon D

更新日期：1978-09-12 00:00:00

abstract：:The cases of identical twins with ataxia telangiectasia, early intellectual impairment and progressive spasticity are reported. Immunological tests revealed reduced levels of serum and salivary IgA, increased B cells, reduced T cells and raised alpha-fetoprotein. CT scan performed in one of the twins was normal. The p...

journal_title：Journal of neurology

authors： Meshram CM,Sawhney IM,Prabhakar S,Chopra JS

更新日期：1986-10-01 00:00:00

abstract：:Alexander disease (AD) is a rare genetic disorder of the central nervous system due to a dysfunction of astrocytes. The most common infantile form presents as a progressive leukodystrophy with macrocephalus. Recently, heterozygous de novo mutations in the gene encoding glial fibrillary acidic protein (GFAP) have been ...

journal_title：Journal of neurology

authors： Brockmann K,Dechent P,Meins M,Haupt M,Sperner J,Stephani U,Frahm J,Hanefeld F

更新日期：2003-03-01 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：:Untreated sleep disorders may contribute to secondary causes of uncontrolled hypertension, cardiovascular disease (CVD), and stroke. Restless legs syndrome, or Willis-Ekbom Disease (RLS/WED), is a common sensorimotor disorder with a circadian rhythmicity defined by an uncontrollable urge to move the legs that worsens ...

journal_title：Journal of neurology

authors： Ferini-Strambi L,Walters AS,Sica D

更新日期：2014-06-01 00:00:00

abstract：:Spinocerebellar ataxias (SCA) are a genetically heterogeneous group of neurodegenerative diseases characterised by progressive cerebellar ataxia, dysarthria and oculomotor abnormalities. Recently the prodynorphin (PDYN) gene was identified as the cause of SCA23 in four Dutch families displaying progressive gait and li...

journal_title：Journal of neurology

authors： Fawcett K,Mehrabian M,Liu YT,Hamed S,Elahi E,Revesz T,Koutsis G,Herscheson J,Schottlaender L,Wardle M,Morrison PJ,Morris HR,Giunti P,Wood N,Houlden H

更新日期：2013-03-01 00:00:00

abstract：:The clinical features of 31 cases of syringomyelic syndrome, confirmed by metrizamide CT myelography (CTM) or magnetic resonance imaging (MRI), were analysed. Bilateral suspended sensory disturbance, previously regarded as a characteristic feature, was encountered in only 2 cases (6.5%). Thirteen patients (41.9%) show...

journal_title：Journal of neurology

authors： Tashiro K,Fukazawa T,Moriwaka F,Hamada T,Isu T,Iwasaki Y,Abe H

更新日期：1987-10-01 00:00:00

abstract：:Twenty-four patients with unilateral facial weakness of various aetiologies were investigated using a magnetic stimulator to stimulate the proximal segment of the facial nerve directly (short latency response) and also to activate the facial motoneurons bilaterally via corticonuclear pathways by placing the stimulatin...

journal_title：Journal of neurology

authors： Meyer BU,Britton TC,Benecke R

更新日期：1989-02-01 00:00:00

abstract：:The cause of idiopathic intracranial hypertension (IIH) remains unknown, and no consensus exists on how patients should be monitored and treated. Acetazolamide is a common treatment but has never been examined in a randomised controlled trial. The objectives of this pilot trial are to prospectively evaluate the use of...

journal_title：Journal of neurology

authors： Ball AK,Howman A,Wheatley K,Burdon MA,Matthews T,Jacks AS,Lawden M,Sivaguru A,Furmston A,Howell S,Sharrack B,Davies MB,Sinclair AJ,Clarke CE

更新日期：2011-05-01 00:00:00

abstract：:Although silent infarcts (SIs) are frequent in stroke patients, their clinical significance remains controversial, and their effect on stroke outcome remains unclear. This study evaluated the prevalence of SI on computed tomography, associated factors, and the effect on outcome in stroke patients. We studied 202 conse...

journal_title：Journal of neurology

authors： Corea F,Hénon H,Pasquier F,Leys D,Lille Stroke\/Dementia Study Group.

更新日期：2001-04-01 00:00:00

abstract：:Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a common autoimmune encephalitis presenting with psychosis, dyskinesias, autonomic dysfunction and seizures. The underlying autoantibodies against the NR1 subunit are directly pathogenic by disrupting synaptic NMDAR currents. However, antibody titers correlate...

journal_title：Journal of neurology

authors： Ly LT,Kreye J,Jurek B,Leubner J,Scheibe F,Lemcke J,Wenke NK,Reincke SM,Prüss H

更新日期：2018-11-01 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：: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

abstract：:We report a case of central European tick-borne encephalitis with cervical myelitis presenting clinically as a lower motor neuron syndrome of the upper limbs with proximal asymmetrical pareses and atrophies. There were no sensory deficits nor signs of lesions of the spinal pathways or signs of encephalitis or meningit...

journal_title：Journal of neurology

authors： Beer S,Brune N,Kesselring J

更新日期：1999-12-01 00:00:00

abstract：:Frailty is known to predict dementia. However, its link with neurodegenerative alterations of the central nervous system (CNS) is not well understood at present. We investigated the association between the biomechanical response of the CNS and frailty in older adults suspected of normal pressure hydrocephalus (NPH) pr...

journal_title：Journal of neurology

authors： Vallet A,Del Campo N,Hoogendijk EO,Lokossou A,Balédent O,Czosnyka Z,Balardy L,Payoux P,Swider P,Lorthois S,Schmidt E

更新日期：2020-05-01 00:00:00

abstract：:The pathogenesis of myopathies occurring in critically ill patients (critical illness myopathy, CIM) is poorly understood. Both local and systemic responses to sepsis and other severe insults to the body are presumed to be involved but the precise mechanisms by which muscle function is impaired are far from clear. To ...

journal_title：Journal of neurology

authors： Friedrich O,Hund E,Weber C,Hacke W,Fink RH

更新日期：2004-01-01 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：: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