Cognitive and social cognitive functioning in spinocerebellar ataxia : a preliminary characterization.

abstract：:Eye movements were studied in 13 patients with Friedreich's ataxia and correlated with MRI findings to investigate whether oculomotor abnormalities can be traced to cerebellar disturbances in this disease. One of the most prominent eye signs was fixation instability (square-wave jerks, SWJ.). Besides SWJ the patients ...

journal_title：Journal of neurology

authors： Spieker S,Schulz JB,Petersen D,Fetter M,Klockgether T,Dichgans J

更新日期：1995-08-01 00:00:00

abstract：:We investigated the effect of chronic mechanical compression of the cervical spinal cord on the number of spinal accessory motoneurons in 25 tiptoe-walking Yoshimura mice. The animals had calcified deposits in the atlantoaxial membrane at the C1-C2 vertebral level, compressing the spinal cord posterolaterally. Motoneu...

journal_title：Journal of neurology

authors： Baba H,Maezawa Y,Uchida K,Imura S,Kawahara N,Tomita K,Kudo M

更新日期：1997-04-01 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：: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：:Bcl2-associated athanogene 3 (BAG3) gene mutations cause dilated cardiomyopathy and myofibrillar myopathy. Recently, a novel c.625C>T (p.Pro209Ser) mutation in BAG3 was reported to cause axonal Charcot-Marie-Tooth (CMT) disease in three families. Here, we describe two patients with adult-onset and moderate CMT in a Ch...

journal_title：Journal of neurology

authors： Fu J,Ma M,Song J,Pang M,Li G,Zhang J

更新日期：2020-04-01 00:00:00

abstract：:Multi-modality evoked potentials and computed cranial tomography (CT) were performed in ten patients with Wilson's disease to determine if any of these studies would correlate reliably with neurologic status. While all four patients with CT abnormality had neurologic signs, two additional patients with neurologic find...

journal_title：Journal of neurology

authors： Roach ES,Ford CS,Spudis EV,Riela AR,McLean WT Jr,Gilliam J,Ball MR

更新日期：1985-01-01 00:00:00

abstract：BACKGROUND:Tumefactive demyelinating lesions of the central nervous system can be the initial presentation in various pathological entities [multiple sclerosis (the most common), Balo's concentric sclerosis, Schilder's disease and acute disseminated encephalomyelitis] with overlapping clinical presentation. The aim of ...

journal_title：Journal of neurology

authors： Balloy G,Pelletier J,Suchet L,Lebrun C,Cohen M,Vermersch P,Zephir H,Duhin E,Gout O,Deschamps R,Le Page E,Edan G,Labauge P,Carra-Dallieres C,Rumbach L,Berger E,Lejeune P,Devos P,N'Kendjuo JB,Coustans M,Auffray-Calv

更新日期：2018-10-01 00:00:00

abstract：OBJECTIVE:To analyse clinical and therapeutic aspects of epilepsy secondary to ulegyria in adults. PATIENTS:Out of 1,020 consecutive patients studied at a tertiary care epilepsy centre, eight cases of ulegyria were identified. All patients had comprehensive clinical evaluation, neuropsychological testing, interictal E...

journal_title：Journal of neurology

authors： Gil-Nagel A,García Morales I,Jiménez Huete A,Alvarez Linera J,del Barrio A,Ruiz Ocaña C,Muñoz DG

更新日期：2005-10-01 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：:Six patients with congenital myotonia and 4 patients with myotonic dystrophy have been examined clinically before and after the administration of N-propyl-ajmalin, an alkaloid frequently used as a cardiac antiarrhythmic drug. All patients but one reported a good to moderate improvement of their myotonic muscle stiffne...

journal_title：Journal of neurology

authors： Birnberger KL,Rüdel R,Struppler A

更新日期：1975-09-01 00:00:00

abstract：:The aims of this study are to investigate whether auditory dysfunction is part of the spectrum of neurological abnormalities associated with Leber's hereditary optic neuropathy (LHON) and to determine the perceptual consequences of auditory neuropathy (AN) in affected listeners. Forty-eight subjects confirmed by genet...

journal_title：Journal of neurology

authors： Rance G,Kearns LS,Tan J,Gravina A,Rosenfeld L,Henley L,Carew P,Graydon K,O'Hare F,Mackey DA

更新日期：2012-03-01 00:00:00

abstract：:Using a novel trial design, we prospectively examined the effect of intravenous immunoglobulin in seven patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in a double-blind, placebo-controlled cross-over study. We suggest that the commonly used manual muscle testing and Rankin scale are not...

journal_title：Journal of neurology

authors： Thompson N,Choudhary P,Hughes RA,Quinlivan RM

更新日期：1996-03-01 00:00:00

abstract：OBJECTIVE:To assess metabolite levels in normal-appearing white matter in sporadic and familial multiple sclerosis (MS). METHODS:Using H-MRS and applying one voxel measure we assessed NAA/Cho, NAA/Cr and Cho/Cr ratios in 26 patients with sporadic and in 25 with familial MS and compared them with healthy subjects. RES...

journal_title：Journal of neurology

authors： Siger-Zajdel M,Selmaj KW

更新日期：2005-07-01 00:00:00

abstract：:Three patients with postural and intention cerebellar tremor caused by a cerebellar infarction in the superior cerebellar artery distribution were studied; treatment with carbamazepine resulted in marked improvement. ...

journal_title：Journal of neurology

authors： Sechi GP,Pirisi A,Agnetti V,Piredda M,Zuddas M,Tanca S,Piras ML,Aiello I,Deserra F,Rosati G

更新日期：1989-12-01 00:00:00

abstract：:58 patients with various underlying neurological diseases, who had an impairment of attention, were examined. 12 patients without clinically evident disorders of attention were examined as a control group. The aim of the study was the development of a standardized procedure for the assessment of impaired attention. An...

journal_title：Journal of neurology

authors： von Cramon D,Brinkmann R,Schulz H

更新日期：1975-01-01 00:00:00

abstract：:From a family with essential familial myoclonus, 150 members in eight generations were studied. Twenty-five of them suffered from myoclonus of varying severity. The findings in routine examinations of blood, urine and cerebrospinal fluid, EEG and skull radiographs were normal. Therapeutic trials did not produce lastin...

journal_title：Journal of neurology

authors： Przuntek H,Muhr H

更新日期：1983-01-01 00:00:00

abstract：:Three families are described which include members with "typical" Friedreich's disease (FD) and others who are ataxic but do not satisfy all the diagnostic criteria for that disease. In family A two patients have an early-onset, rapidly progressive FD, while two others have a late-onset, more benign form. In families ...

journal_title：Journal of neurology

authors： Filla A,De Michele G,Cavalcanti F,Santorelli F,Santoro L,Campanella G

更新日期：1991-06-01 00:00:00

abstract：:We should like to emphasize the following points: 1. Apathy is defined here as a quantified and observable behavioral syndrome consisting in a quantitative reduction of voluntary (or goal-directed) behaviors; 2. Therefore, apathy occurs when the systems that generate and control voluntary actions are altered; 3. These...

journal_title：Journal of neurology

authors： Levy R,Czernecki V

更新日期：2006-12-01 00:00:00

abstract：:X-linked adrenoleukodystrophy (XALD), a neurological disorder caused by mutations in the peroxisomal membrane protein gene ABCD1, presents as a rapidly progressing, inflammatory cerebral demyelination (cerebral cases) or a slowly progressing, distal axonopathy (non-cerebral cases). Specific ABCD1 defects do not explai...

journal_title：Journal of neurology

authors： Brose RD,Avramopoulos D,Smith KD

更新日期：2012-07-01 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：:Headache attributed to ingestion of a cold stimulus (ICHD-3 beta 4.5.1) is also known as ice cream headache (ICH). This cross-sectional epidemiological study included 283 students (10-14-year-olds) attending a grammar school in Germany, their parents (n = 401), and 41 teachers. A self-administered questionnaire was us...

journal_title：Journal of neurology

authors： Zierz AM,Mehl T,Kraya T,Wienke A,Zierz S

更新日期：2016-06-01 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：:Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. We report two unrelated female patients born to consanguineous parents presenting with this condition. Patient 1 showed a classical clinical/neuroradiological phenotype of PCH2 with dyskinesia/dystonia. Patient 2 had a neonatal onset...

journal_title：Journal of neurology

authors： Grosso S,Mostadini R,Cioni M,Galluzzi P,Morgese G,Balestri P

更新日期：2002-05-01 00:00:00

abstract：:The clinicopathological findings of a 50-year-old man, who developed cervicothoracic syringomyelia at the age of 25 are presented. He was given radiation therapy at the age of 33. At the age of 57 he developed a foramen jugulare syndrome on the left, caused by a low grade leiomyosarcoma. Etiologically, the most attrac...

journal_title：Journal of neurology

authors： Sieben G,Sieben-Praet M,De Reuck J,De Coster W,Remouchamps A,Roels H,vander Eecken H

更新日期：1980-01-01 00:00:00

abstract：:During the last few years, deep brain stimulation (DBS) of the subthalamic nucleus (STN) has emerged as a promising therapy, alleviating major motor symptoms of Parkinson's disease (PD). However, in times of growing budgetary limitations, medical decisions are no longer merely based on clinical efficacy, but also on c...

journal_title：Journal of neurology

authors： Meissner W,Schreiter D,Volkmann J,Trottenberg T,Schneider GH,Sturm V,Deuschl G,Kupsch A

更新日期：2005-02-01 00:00:00

abstract：:Uric acid (UA) is reduced in multiple sclerosis (MS), and possibly relates to MS outcomes, with lower UA levels in subjects experiencing a relapse or presenting higher disability scores. The present retrospective longitudinal study evaluated UA variations in MS, in relation to clinical relapses, disability progression...

journal_title：Journal of neurology

authors： Moccia M,Lanzillo R,Costabile T,Russo C,Carotenuto A,Sasso G,Postiglione E,De Luca Picione C,Vastola M,Maniscalco GT,Palladino R,Brescia Morra V

更新日期：2015-01-01 00:00:00

abstract：:Acute mountain sickness (AMS) can occur during climbs to high altitudes and may seriously disturb the behavioral and intellectual capacities of susceptible subjects. During a Himalayan expedition 32 mountaineers were examined with electroencephalography (EEG) and transcranial doppler sonography (TCD) to assess relativ...

journal_title：Journal of neurology

authors： Feddersen B,Ausserer H,Neupane P,Thanbichler F,Depaulis A,Waanders R,Noachtar S

更新日期：2007-03-01 00:00:00

abstract：:Gastrointestinal dysfunction, especially constipation, is one of the major problems in the daily life of patients with Parkinson's disease (PD). About 60 to 80% of PD patients suffer from constipation. Several studies have proven that constipation appears about 10 to 20 years prior to motor symptoms. More recently, Ab...

journal_title：Journal of neurology

authors： Ueki A,Otsuka M

更新日期：2004-10-01 00:00:00

abstract：BACKGROUND:Body weight reduction after disease onset is an independent predictor of survival in amyotrophic lateral sclerosis (ALS), but significance of weight variation after diagnosis remains to be established. OBJECTIVE:To investigate weight variation after diagnosis and its prognostic significance in patients with...

journal_title：Journal of neurology

authors： Shimizu T,Nakayama Y,Matsuda C,Haraguchi M,Bokuda K,Ishikawa-Takata K,Kawata A,Isozaki E

更新日期：2019-06-01 00:00:00

abstract：:Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and k...

journal_title：Journal of neurology

authors： García-Martín E,Martínez C,Alonso-Navarro H,Benito-León J,Lorenzo-Betancor O,Pastor P,Puertas I,Rubio L,López-Alburquerque T,Agúndez JA,Jiménez-Jiménez FJ

更新日期：2011-02-01 00:00:00