Abstract:
:The association of cortical tremor, myoclonus and epileptic seizures has been reported in many Japanese and European families with different acronyms. We reviewed the familial cases presenting the clinical picture of autosomal dominant cortical tremor, myoclonus and epilepsy and analysed the phenotypic differences between the pedigrees, according to the recent genetic acquisitions. We concluded that BAFME, FAME, FEME, FCTE and ADCME are the same clinical entity even if genetically heterogeneous, with Japanese families linked to 8q24 and Italian ones to 2p11.1-q12. A third locus could also be involved. Further studies should better clarify the electrophysiological features of this condition and identify the underlying molecular defects.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Striano P,Zara F,Striano Sdoi
10.1111/j.1600-0404.2005.00385.xsubject
Has Abstractpub_date
2005-04-01 00:00:00pages
211-7issue
4eissn
0001-6314issn
1600-0404pii
ANE385journal_volume
111pub_type
杂志文章abstract:BACKGROUND:The Multiple Sclerosis Functional Composite (MSFC) is a multidimensional measurement tool for multiple sclerosis (MS) including a measure of ambulation (Timed 25-foot Walk [TWT]), arm function (Nine-Hole Peg Test [9HPT]) and cognition (Paced Auditory Serial Addition Test [PASAT]). OBJECTIVES:To assess the r...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2007.00972.x
更新日期:2008-06-01 00:00:00
abstract:OBJECTIVES:To determine headache characteristics in the obstructive sleep apnea syndrome (OSAS) and in insomnia. PATIENTS AND METHODS:Fifty-six OSAS patients and 50 insomnia patients were assessed in the same time period. Patients in both groups underwent an accurate interview to investigate headache occurrence and it...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2005.00372.x
更新日期:2005-05-01 00:00:00
abstract::A large Japanese family with probable Machado-Joseph disease (MJD) is described. Detailed neurological examination in 12 patients from 3 generations revealed variable combinations of cerebellar ataxia, ocular paresis, difficulty in eye-lid opening, bulging eyes, facial "myokymia", facial dystonia, pyramidal signs, ext...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1989.tb03741.x
更新日期:1989-03-01 00:00:00
abstract::While the association of spinal cord tumor and high-pressure hydrocephalus is well known, only 5 cases of spinal cord tumor associated with normotensive hydrocephalus have been reported. Two further cases are described here, discussing the possible pathophysiological mechanism. It is suggested that these patients go t...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0404.1987.tb03585.x
更新日期:1987-10-01 00:00:00
abstract:BACKGROUND:Far from being uniform, Huntington's disease (HD)'s phenotype encompasses a large variety of motor and non-motor symptoms which occur in various combinations in individual patients. AIM:To describe an unusual association between restless legs syndrome (RLS) and HD. METHODS AND RESULTS:We report a patient w...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2008.01091.x
更新日期:2009-04-01 00:00:00
abstract:BACKGROUND:Carotid intimal medial thickening (c-IMT) is an established surrogate marker for atherosclerosis. There have been sporadic reports about an increase of c-IMT on the left carotid artery among populations with a mean age of +/-50 years. OBJECTIVE:The purpose of this study was to evaluate whether there is a di...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2007.00828.x
更新日期:2007-06-01 00:00:00
abstract:BACKGROUND:Both pregnancy and high vitamin D concentration seem to generate a protective environment against multiple sclerosis (MS) relapses. Longitudinal case-control analysis of vitamin D concentrations during pregnancy and lactation of MS mothers is lacking. AIMS OF THE STUDY:To examine serum 25-hydroxyvitamin-D3 ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12306
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVES:Perampanel is an antiepileptic drug (AED) approved for add-on treatment of focal seizures (with or without generalization) and primary generalized tonic-clonic (GTC) seizures. Our objective was to explore the effectiveness and tolerability of adjunctive perampanel in patients with drug-resistant myoclonic se...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,多中心研究
doi:10.1111/ane.12931
更新日期:2018-08-01 00:00:00
abstract::N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine, MPTP, is a neurotoxic substance known to induce a parkinsonian syndrome in primates. The distribution of intravenously injected 11C-labelled MPTP (11C-MPTP) in the head of Rhesus monkeys was studied by means of positron emission tomography, PET. The influence of pretreatme...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb04618.x
更新日期:1986-07-01 00:00:00
abstract::The diagnosis of multiple sclerosis (MS) is clinical and verifiable at post mortem. Neuropathological examination of 518 consecutive patients with clinically definite MS revealed a correct diagnosis in 485 cases (94%). Clinical diagnosis had been established by a neurologist in all cases. Erroneous diagnosis included ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1988.tb03616.x
更新日期:1988-07-01 00:00:00
abstract:UNLABELLED:Soluble APO-1 (sAPO-1) may prevent apoptosis of lymphocytes induced by activation of the APO-1/Fas receptor. OBJECTIVES:To determine sAPO-1 levels in the serum of multiple sclerosis (MS) patients and controls in order to investigate if abnormal lymphocyte apoptosis occurs in this disease. METHODS:Serum sam...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1997.tb00100.x
更新日期:1997-04-01 00:00:00
abstract:OBJECTIVES:Spinocerebellar ataxia type 7 is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and retinal degeneration, described in various population groups in the literature. This is the first description from South Africa. The objective was to document the clinical and gen...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2000.101003177.x
更新日期:2000-03-01 00:00:00
abstract:OBJECTIVE:Multiple sclerosis (MS), Parkinson's disease (PD) and stroke (ST) subjects show balance impairments due to damage of the balance control system. The objective of the study was to assess the impact of MS, PD and ST on upright posture in eyes open condition and when visual and/or proprioceptive inputs are alter...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12466
更新日期:2016-05-01 00:00:00
abstract::One cause of ischemic brain injury is free radical formation during recirculation. Allopurinol inhibits xanthine oxidase, an important source of free oxygen radicals. It is known that allopurinol pre-treatment has a protective action during cerebral ischemia. In the present study we exposed slices from the rat hippoca...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1991.tb04702.x
更新日期:1991-05-01 00:00:00
abstract:OBJECTIVE:Individuals with Parkinson's disease (PD) and freezing of gait (FOG) present peripheral and central sensitivity disturbances that impair motor performance. This study aimed to investigate long-term effects of plantar sensory stimulation on brain activity, brain connectivity, and gait velocity of individuals w...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,随机对照试验
doi:10.1111/ane.13253
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVES:To assess the effectiveness and safety/tolerability of eslicarbazepine acetate (ESL) in patients included in the Euro-Esli study who had focal seizures associated with post-stroke epilepsy (PSE). MATERIALS AND METHODS:Euro-Esli was a pooled analysis of 14 European clinical practice studies. Effectiveness as...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13323
更新日期:2020-12-01 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
pub_type: 杂志文章
doi:10.1111/ane.13281
更新日期:2020-09-01 00:00:00
abstract::The alteration of amino acids in cerebrospinal fluids (CSF) from 14 cases of Parkinson's disease, five cases of cerebellar degeneration and five cases of headache (control) was studied using high performance liquid chromatography. In patients with Parkinson's disease, it was found that the CSF level of GABA showed a s...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb03249.x
更新日期:1986-02-01 00:00:00
abstract:OBJECTIVES:The LRRK2-G2019S mutation is the most common cause of Parkinson's disease (PD) in North Africa. G2019S-PD has been described as similar to idiopathic with minor clinical differences. The aim of this study was to determine the G2019S-related phenotype and to investigate gender and gene dosage effects on clini...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12996
更新日期:2018-11-01 00:00:00
abstract:OBJECTIVES:To assess the correlation of diffusion-weighted (DWI) and perfusion-weighted imaging (PWI) findings with the severity of acute neurologic deficit and their ability to predict short and long-term clinical outcomes of stroke. The ability of DWI and PWI to predict the outcome was compared with the ability of cl...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2005.00550.x
更新日期:2006-02-01 00:00:00
abstract:OBJECTIVE:To report unique and unknown clinical features of muscle fasciculation and muscle hypertrophy in a case of congenital dermal sinus. PATIENTS:A 16-year-old girl presented with continuous fasciculation, often cramp, and hypertrophy of the left calf muscle. The radiography showed spina bifida of L4, L5 and S1. ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.103005323.x
更新日期:2001-05-01 00:00:00
abstract::Current understanding on the historic, epidemiologic, genetic, clinical, neuropathologic, neurochemical, diagnostic and therapeutic aspects of progressive supranuclear palsy (PSP) are revisited. In addition, new research directions are described. ...
journal_title:Acta neurologica Scandinavica
pub_type: 更正并重新发布的文章,杂志文章,评审
doi:
更新日期:1998-12-01 00:00:00
abstract::Symptoms of acute renal failure were observed in an anorexia patient who had a history of frequent vomiting. The acute renal failure might have resulted from rhabdomyolysis subsequent to a disturbance of electrolyte balance. This acute renal failure might have resulted in death if not treated. We postulate that even a...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb00935.x
更新日期:1990-01-01 00:00:00
abstract:OBJECTIVES:Posterior location affects the clinical presentation and outcome of ischemic stroke, but little is known about occipital intracerebral hemorrhage (ICH). We studied non-traumatic occipital ICH phenotype, outcome, and post-ICH epilepsy. MATERIALS AND METHODS:Occipital ICH patients were retrospectively identif...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13303
更新日期:2020-06-30 00:00:00
abstract:INTRODUCTION:We describe bilateral optic neuropathy in a patient affected by ovarian carcinoma treated with cis-platin 160 mg/m2 and carboplatin, 640 mg/m2. The patient was followed for 1 year, when recovery appeared. The few previous descriptions of CDDP optic nerve toxicity did not report recovery. METHODS:Computeri...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1997.tb00280.x
更新日期:1997-10-01 00:00:00
abstract::63 patients with alcoholic-nutritional peripheral neuropathy were given neurologic, electrophysiologic and nutritional examinations. 24 of these patients were reexamined later in the course of their disease, after from 2 to 72 months (mean 33). Alcoholic-nutritional neuropathy appeared and worsened after bouts of heav...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1982.tb03146.x
更新日期:1982-11-01 00:00:00
abstract:BACKGROUND:Previous studies have shown that white matter lesions (WMLs) is an important risk factor for cognitive impairment, but the underlying mechanisms have not been clarified. OBJECTIVE:We tested the hypothesis that the cognitive impairments associated with periventricular white matter hyperintensities (PWMHs) on...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12262
更新日期:2014-09-01 00:00:00
abstract::The prophylactic effect of a 5-HT uptake inhibitor, femoxetine, was compared with that of propranolol in a double-blind crossover study of 6-months duration. 29 patients commenced the experiment. 3 subjects withdrew because of side effects and 2 because the program was inconvenient for them. In the 24 patients who con...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1983.tb04836.x
更新日期:1983-10-01 00:00:00
abstract:OBJECTIVES:To study the clinical outcome of patients with epileptic seizures due to ischemic stroke (IS) of cardiac or artery-to-artery embolism. METHODS:Seizures due to IS of cardiac or artery-to-artery embolism are differentiated by clinical, neuroimaging and cardiovascular test data. RESULTS:From 174 cases with su...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb00629.x
更新日期:1998-03-01 00:00:00
abstract:OBJECTIVES:Cognitive impairment is frequent in children with frontal lobe epilepsy (FLE). Its etiology remains unknown. With diffusion tensor imaging, we have studied cerebral white matter properties and associations with cognitive functioning in children with FLE and healthy controls. METHODS:Thirty children aged 8-1...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12183
更新日期:2014-04-01 00:00:00