A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation.

abstract：OBJECTIVES:Fatigue is a disabling and dopa-resistant symptom in Parkinson's disease (PD). Pathological studies have shown that both peripheral and central cholinergic systems are involved in PD. Electrophysiological investigation showed decremental muscle responses following repetitive nerve stimulation (RNS). We hypot...

journal_title：Acta neurologica Scandinavica

authors： Hwang WJ,Lin TS

更新日期：2001-11-01 00:00:00

abstract：OBJECTIVES:Until now, the significance of plasma exchange (PE) as a treatment for steroid-unresponsive optic neuritis (ON) is still unclear because placebo-controlled and larger studies are missing. We report our experience with 23 patients treated by PE due to steroid-unresponsive ON. MATERIALS AND METHODS:Patients w...

journal_title：Acta neurologica Scandinavica

authors： Roesner S,Appel R,Gbadamosi J,Martin R,Heesen C

更新日期：2012-08-01 00:00:00

abstract：OBJECTIVES:We studied the in vitro production of variably MS-related cytokines from Sardinian MS and healthy donors bearing the two "Sardinian" MS-associated HLA-DR alleles: DR3 and DR4, with the purpose to evidentiate possible differences in their immune response. MATERIALS AND METHODS:ELISA were used for detection o...

journal_title：Acta neurologica Scandinavica

authors： Sotgiu S,Serra C,Marrosu MG,Dolei A,Pugliatti M,Murgia B,Aiello I,Rosati G

更新日期：1998-11-01 00:00:00

abstract：OBJECTIVES:Myotonic dystrophy type 1 (DM1) is caused by large expansions of cytosine-thymine-guanine (CTG)-repeats in myotonic dystrophy protein kinase (DMPK)-gene. This gene is highly polymorphic in healthy individuals. It has been proposed that expanded alleles originated from the group of large sized normal alleles....

journal_title：Acta neurologica Scandinavica

authors： Culjković B,Stojković O,Vukosavić S,Savić D,Rakocevic V,Apostolski S,Romac S

更新日期：2002-01-01 00:00:00

abstract：:Cognitive deficits have been reported in 45%-70% of patients with multiple sclerosis (MS). Like other symptoms of MS, cognitive deficits are highly variable. Slowed information processing and memory and learning dysfunction are regarded as the most frequent cognitive deficits in MS. Both white and gray matter damages ...

journal_title：Acta neurologica Scandinavica

authors： Hämäläinen P,Rosti-Otajärvi E

更新日期：2016-09-01 00:00:00

abstract：:Twenty-four consecutive patients with familial amyloidosis with polyneuropathy (type 1), who were at different stages of the disease were investigated. The purpose was to report the electrophysiological features and to compare them with those found in other generalized neuropathies; 12 cases were familiar and 12 cases...

journal_title：Acta neurologica Scandinavica

authors： Blom S,Steen L,Zetterlund B

更新日期：1981-02-01 00:00:00

abstract：:A family with coincidence of a restless leg syndrome (RLS) in the mother and a Gilles de la Tourette syndrome (GTS) in the son who also shows increased vulnerability to neuroleptic induced akathisia (NIA) is presented. Since these diseases show parallels from a genetic, pathogenetic and clinical point of view, the fam...

journal_title：Acta neurologica Scandinavica

authors： Müller N,Voderholzer U,Kurtz G,Straube A

更新日期：1994-06-01 00:00:00

abstract：:sHLA are secreted by B and T lymphocytes upon activation. These antigens are present in serum and cerebrospinal fluid (CSF). The establishment of a sHLA index, IH = (CSF sHLA/serum sHLA)/(CSF albumin/serum albumin) helped us to define that values above 9.7 reflect an intrathecal synthesis of these proteins. IH was sig...

journal_title：Acta neurologica Scandinavica

authors： Alvarez-Cermeño JC,Casado C,Villar LM,Ferreira A,Varela JM,Dominguez M,Bootello A,Najera R,Gonzalez-Porque P

更新日期：1990-07-01 00:00:00

abstract：:The present paper reports a family settled in the northern part of Norway, with a hereditary neurological disorder consisting clinically of spastic paraplegia associated with neurogenic bladder disturbances and syndactylia. Nine out of 22 members in three generations exhibit these clinical features. The bladder distur...

journal_title：Acta neurologica Scandinavica

authors： Opjordsmoen S,Nyberg-Hansen R

更新日期：1980-01-01 00:00:00

abstract：OBJECTIVES:Mutations in the CHCHD10 gene, which encodes a mitochondrially targeted protein, have emerged as an important cause of motor neuron disease and frontotemporal lobar degeneration. The aim of this study was to assess the clinical variability in a large family carrying the p.Gly66Val mutation of the CHCHD10 gen...

journal_title：Acta neurologica Scandinavica

authors： Pasanen P,Myllykangas L,Pöyhönen M,Kiuru-Enari S,Tienari PJ,Laaksovirta H,Toppila J,Ylikallio E,Tyynismaa H,Auranen M

更新日期：2016-05-01 00:00:00

abstract：:We report 20 cases of right unilateral spatial neglect caused by lesions in the left cerebral hemisphere. Differences in neuropsychological symptoms and lesions sites are discussed in connection with handedness. Of the right-handed patients, 6 had severe aphasia, 4 had Gerstmann's syndrome, and 1 had pure agraphia, bu...

journal_title：Acta neurologica Scandinavica

authors： Maeshima S,Shigeno K,Dohi N,Kajiwara T,Komai N

更新日期：1992-06-01 00:00:00

abstract：:Single, small (less than 1 cm) enhancing lesions are frequent findings on CT scans of Indian patients with seizures. These lesions have also been reported in patients from other parts of the world. They often resolve spontaneously and their etiology has been disputed for over a decade. Initially diagnosed in Indian pa...

journal_title：Acta neurologica Scandinavica

authors： Rajshekhar V

更新日期：1991-12-01 00:00:00

abstract：OBJECTIVES:Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease. There is evidence that oxidative stress is implicated in the pathophysiology of the neurodegenerative disorders, including ALS. Data from the literature suggests that the receptor for advanced glycation end products (RAGE) partic...

journal_title：Acta neurologica Scandinavica

authors： Iłzecka J

更新日期：2009-08-01 00:00:00

abstract：OBJECTIVE:To describe clinical features of a patient with secretions of atrial natriuretic peptide (ANP) and brain natriuretic peptide (BNP) during an epileptic attack. PATIENT:A 65-year-old woman experienced frequent bouts of polyuria, pyrexia and general fatigue after several years of a cerebral contusion involving ...

journal_title：Acta neurologica Scandinavica

authors： Obi T,Takatsu M,Konishi T,Mizoguchi K,Nishimura Y

更新日期：2002-10-01 00:00:00

abstract：OBJECTIVES:Although leukoaraosis (LA) is a common CT findings, its pathogenesis remains debated: if small-artery pathology may explain in some cases white matter changes, many other factors, such as hemodynamic perturbations, might also lead to LA. To test these hypothesis, we determined the types of cerebrovascular ri...

journal_title：Acta neurologica Scandinavica

authors： Hénon H,Godefroy O,Lucas C,Pruvo JP,Leys D

更新日期：1996-08-01 00:00:00

abstract：OBJECTIVES:To investigate efficacy and safety of entacapone across phase III studies in Parkinson's disease (PD) with wearing-off symptoms. METHODS:Retrospective, pooled analysis of four phase 3 randomized, double-blind, placebo-controlled studies with entacapone. RESULTS:475 of 808 patients with PD received entacapo...

journal_title：Acta neurologica Scandinavica

authors： Kuoppamäki M,Vahteristo M,Ellmén J,Kieburtz K

更新日期：2014-10-01 00:00:00

abstract：:IgG and IgM concentrations in tears of multiple sclerosis patients (n = 38) are increased compared to normal controls (n = 23). The occurrence of oligoclonal tear IgG bands (7.9%)--as determined by immunoblotting--did not differ between groups. Our findings suggest an altered reactivity of the secretory immune system ...

journal_title：Acta neurologica Scandinavica

authors： Liedtke W,Weller M,Wiethölter H,Dichgans J

更新日期：1992-03-01 00:00:00

abstract：OBJECTIVES:We used an electrical conditioning stimulation followed by transcranial magnetic stimulation (TMS) to facilitate the occurrence of long latency potentials (LLPs) in order to study the relationship between primary motor evoked potentials (MEPs) and LLPs in the lower limbs. MATERIALS AND METHODS:The study gro...

journal_title：Acta neurologica Scandinavica

authors： Chen JT,Chen CC,Kao KP,Wu ZA,Liao KK

更新日期：1998-12-01 00:00:00

abstract：OBJECTIVE:To assess seizure control and tolerability of eslicarbazepine acetate (ESL) as adjunctive therapy to one baseline antiepileptic drug (AED), in adults with partial-onset seizures (POS) with or without secondary generalization. METHODS:Multicenter, non-interventional, prospective cohort study conducted between...

journal_title：Acta neurologica Scandinavica

authors： Chaves J,Breia P,Pimentel J,Pelejão R,Carvalho M,Mateus P,Grebe H,Mestre A,Fernandes H,Sousa R,Gala A

更新日期：2017-11-01 00:00:00

abstract：:Rats with different levels of blood glucose concentration were exposed to 10 min of complete brain ischemia achieved by compression of neck vessels by a pneumatic cuff. All normoglycemic rats survived the ischemic period and made the best clinical recovery. Hyperglycemic rats died within 12 h. Seizure activity was obs...

journal_title：Acta neurologica Scandinavica

authors： Siemkowicz E,Hansen AJ

更新日期：1978-07-01 00:00:00

abstract：OBJECTIVE:LMNB1-related autosomal dominant leukodystrophy is caused by an overexpression of the protein lamin B1, usually due to a duplication of the LMNB1 gene. Symptoms start in 5th to 6th decade. This slowly progressive disease terminates with death. We studied brain glucose metabolism in this disease using 18 F-flu...

journal_title：Acta neurologica Scandinavica

authors： Finnsson J,Lubberink M,Savitcheva I,Fällmar D,Melberg A,Kumlien E,Raininko R

更新日期：2019-02-01 00:00:00

abstract：OBJECTIVES:The aim of this study was to assess the existence of polyautoimmunity in a Greek cohort of multiple sclerosis (MS), particularly multiple autoimmune syndrome (MAS), i.e., the presence of three or more distinct autoimmune disorders (ADs) in the same individual. METHODS:Cross-sectional control study. RESULTS...

journal_title：Acta neurologica Scandinavica

authors： Deretzi G,Kountouras J,Polyzos SA,Koutlas E,Pelidou SH,Xeromerisiou G,Zavos C,Tsiptsios I

更新日期：2015-04-01 00:00:00

abstract：:A purified citric acid soluble extract from human skeletal muscle (AEMA) and a phosphate-buffered saline extract from rabbit muscle acetone powder (EMA) were used to coat polystyrene beads in an enzyme-linked immunosorbent assay (ELISA). From 54 patients with myasthenia gravis, positive results were observed in 14. Fi...

journal_title：Acta neurologica Scandinavica

authors： Viana VS,Bueno C,Marchiori PE,Oliveira RM,Assis JL,Scaff M,Cossermelli W

更新日期：1986-06-01 00:00:00

abstract：:Previously we have shown low levels of dystrophin immunoreactivity in muscle from patients with DMD. According to the "frame-shift hypothesis" DMD muscle should not synthesize any dystrophin through to the C-terminus and it has been suggested that the protein detected is not dystrophin, but a related autosomal homolog...

journal_title：Acta neurologica Scandinavica

authors： Nicholson LV,Johnson MA,Davison K,O'Donnell E,Falkous G,Barron M,Harris JB

更新日期：1992-07-01 00:00:00

abstract：OBJECTIVES:Cerebral hypoperfusion has been evidenced in patients with periventricular white matter lucency (PWML), however, our knowledge is limited regarding vasoreactivity (VR) changes in these patients. Therefore, we compared the cerebral blood flow velocity (CBFV) responses during different vasoregulatory challenge...

journal_title：Acta neurologica Scandinavica

authors： Bönöczk P,Panczel G,Nagy Z

更新日期：2004-10-01 00:00:00

abstract：OBJECTIVE:We performed a systematic review and meta-analysis to evaluate the proposed association of restless legs syndrome (RLS) with cerebrovascular/cardiovascular outcomes. METHODS:We calculated the corresponding odds ratios on the prevalence of cerebrovascular/cardiovascular risk factors and standardized mean diff...

journal_title：Acta neurologica Scandinavica

authors： Katsanos AH,Kosmidou M,Konitsiotis S,Tsivgoulis G,Fiolaki A,Kyritsis AP,Giannopoulos S

更新日期：2018-01-01 00:00:00

abstract：:Two new components of the human SEP upon stimulation of the contralateral median nerve at the wrist have been identified. Such components have been called N16 and N17, according to their polarity and latency. N16 and N17, as well as the N14-P15 complex, are generated by separate subcortical dipoles. Particularly, they...

journal_title：Acta neurologica Scandinavica

authors： Abbruzzese M,Favale E,Leandri M,Ratto S

更新日期：1978-12-01 00:00:00

abstract：OBJECTIVES:To examine the clinical characteristics of autoimmune encephalitis associated with the glutamate decarboxylase 65 (GAD 65) antibody. MATERIALS AND METHODS:Medical records of all patients that diagnosed with GAD 65 antibody-associated encephalitis were retrospectively analyzed. Data regarding demographics an...

journal_title：Acta neurologica Scandinavica

authors： Zhu F,Shan W,Lv R,Li Z,Wang Q

更新日期：2020-09-01 00:00:00

abstract：:Twenty solvent-exposed workers, most of them painters, had been diagnosed as cases of toxic encephalopathy in 1978/79. Two years later they were re-examined with an extensive battery of neuropsychological tests. Their performance was unchanged on retesting. We have now compared their test results with those of non-exp...

journal_title：Acta neurologica Scandinavica

authors： Gade A,Mortensen EL,Bruhn P

更新日期：1988-04-01 00:00:00

abstract：OBJECTIVES:The cost-effectiveness of available pharmacological treatments for narcolepsy is largely unknown. Available pharmacological treatments are associated with tolerability, abuse, and adherence issues. Pitolisant is the first inverse agonist of the histamine H3 receptor to be prescribed for the treatment of narc...

journal_title：Acta neurologica Scandinavica

authors： Bolin K,Niska PÅ,Pirhonen L,Wasling P,Landtblom AM

更新日期：2020-04-01 00:00:00