Abstract:
:Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreich's ataxia. These patients seem to represent a form of Friedreich's ataxia mimicking Charcot-Marie-Tooth disease.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Panas M,Kalfakis N,Karadima G,Davaki P,Vassilopoulos Ddoi
10.1007/s00415-002-0902-2keywords:
subject
Has Abstractpub_date
2002-11-01 00:00:00pages
1583-6issue
11eissn
0340-5354issn
1432-1459journal_volume
249pub_type
杂志文章abstract::We report a case of polycythemia vera with chorea in which the brain metabolism and dopamine system were investigated using 2-[(18)F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) and (99m)Tc-labeled tropane dopamine transporter ((99m)Tc-TRODAT-1) single photon emission computed tomography (SPECT). Al...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6069-y
更新日期:2011-11-01 00:00:00
abstract::We report three members of a single family with an apparently autosomal dominant, nonparoxysmal, hyperkinetic movement disorder with onset in adolescence. The proband, a 56-year-old woman, manifested dystonia, tremor and myoclonus; one of her daughters exhibited myoclonus with tremor, and the other demonstrated myoclo...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050116
更新日期:1997-07-01 00:00:00
abstract::Isolated floccular infarction is extremely rare, and impairments of the vestibulo-ocular reflex (VOR) have not been explored in humans with isolated floccular lesions. The purpose of this study was to examine and report selective impairment of VOR in response to high acceleration using head impulse in a patient with i...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-6837-y
更新日期:2013-06-01 00:00:00
abstract::We report two adult Japanese sisters with L-2-hydroxy-glutaric aciduria (acidemia), both of whom were much older (aged 57, 47 years old) than previously reported patients (from neonate to 44 years old), and who presented with differing severity. Magnetic resonance imaging revealed typical subcortical white matter lesi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050367
更新日期:1999-05-01 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
pub_type: 杂志文章,评审
doi:10.1007/s00415-013-7003-2
更新日期:2014-02-01 00:00:00
abstract:INTRODUCTION:The present study aimed to survey the prevalence of prodromal symptoms of Parkinson's disease (PD) in Japanese health checkup examinees, for identifying at-risk subjects. METHODS:We conducted a questionnaire survey of annual health checkup examinees without neurological symptoms using the following self-r...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09714-6
更新日期:2020-05-01 00:00:00
abstract::The use of a dopamine agonist with a long duration of action has theoretical advantages in attempting to reduce the motor fluctuations in Parkinson's disease. We report the results of a double-blind controlled study of adding cabergoline, an ergot derivative with potent long-lasting high affinity for the D2 receptor, ...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF00878534
更新日期:1996-01-01 00:00:00
abstract::Homozygous mutations in the PINK1 gene have been shown to cause early-onset parkinsonism. Here, we describe a novel homozygous mutation (Q126P), identified in two affected German sisters with a clinical phenotype typical for PINK1-associated parkinsonism. We analysed lactate, pyruvate, carnitine and acylcarnitine bloo...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0763-4
更新日期:2008-05-01 00:00:00
abstract:: ...
journal_title:Journal of neurology
pub_type: 信件
doi:10.1007/s00415-018-9066-6
更新日期:2018-12-01 00:00:00
abstract::Fatigue is a frequent and often severe symptom in multiple sclerosis. Pathogenic mechanisms proposed for fatigue include the release of proinflammatory cytokines, which is thought to have an important effect on changes in the blood-brain barrier (BBB). To investigate whether fatigue is related to BBB disruption we stu...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s004150050382
更新日期:1999-06-01 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
pub_type: 杂志文章
doi:10.1007/s00415-019-09689-z
更新日期:2020-05-01 00:00:00
abstract::A general scheme of analysis for the investigation of minute calcification is presented. After low temperature ashing, the samples are subjected to chemical, structural and morphological study, using atomic absorption spectrometry, infrared spectrometry, X-ray diffraction and scanning electron microscopy. Details abou...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00312479
更新日期:1977-06-13 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
pub_type: 杂志文章,评审
doi:10.1007/s00415-006-7012-5
更新日期:2006-12-01 00:00:00
abstract::Hirayama's disease is a benign juvenile form of focal amyotrophy affecting the upper limbs. Previous studies have suggested that the disorder is a neck flexion induced cervical myelopathy. We report clinical and magnetic resonance imaging findings in nine patients with Hirayama's disease. Cervical imaging of seven pat...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050514
更新日期:1999-11-01 00:00:00
abstract:OBJECTIVES:There are varying reports on whether monoclonal gammopathy of undetermined significance-associated neuropathy (MGUSN) patients are distinguishable from those with chronic inflammatory demyelinating polyneuropathy (CIDP) and whether specific MGUSN subclasses are associated with specific clinical phenotypes. ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7357-0
更新日期:2014-08-01 00:00:00
abstract::Two patients with chorea and polycythaemia vera are described. The literature on this rare association is reviewed and its pathophysiology discussed. ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313895
更新日期:1985-01-01 00:00:00
abstract::Neurological complications in the acquired immunodeficiency syndrome (AIDS) are an important aspect of this new infectious disease and occur frequently. The existence of neurotropic variants of the human immunodeficiency virus (HIV), the causative agent of AIDS, is probable. Direct infection of the nervous system with...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF00314279
更新日期:1987-06-01 00:00:00
abstract::Palatal myoclonus is thought to occur after damage to certain brain-stem structures, and with a delay following the causative lesion. A case of palatal myoclonus, probably of epileptic nature, is described. ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00839145
更新日期:1992-04-01 00:00:00
abstract::Movement-associated cortical potentials (MP) associated with thumb-opposition or fist-clenching were studied in 20 patients with unilateral cerebral lesions and in 8 healthy subjects. MP was abnormal in 16 patients. The most frequent abnormality was an attenuation of the N component or readiness potential, recorded on...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00312541
更新日期:1975-07-02 00:00:00
abstract::Cognition and gait appear to be closely related. The chronological interplay between cognitive decline and gait dysfunction is not fully understood. The aim of the present prospective study is investigating whether the dysfunction of specific gait parameters, during specific task and medication conditions, may predict...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-8973-x
更新日期:2018-10-01 00:00:00
abstract::The pharmacokinetics of free and total valproic acid (VPA) in plasma and whole blood after oral administration during steady state was investigated in seven infants (mean age 10.7 months) receiving monotherapy. The VPA concentrations in whole blood closely followed those in plasma but at a reduced level. A positive co...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00315328
更新日期:1991-09-01 00:00:00
abstract:OBJECTIVES:The outcome of aphasia at 3 months is variable in patients with moderate/severe stroke. The aim was to predict 3-month aphasia outcome using prediction models including initial severity in addition to the interaction between lesion size and location at the acute phase. METHODS:Patients with post-stroke apha...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09259-3
更新日期:2019-06-01 00:00:00
abstract::Both neurologists and urologists might encounter patients with acute urinary retention due to benign inflammatory nervous diseases. Based on the mechanism of urinary retention, these disorders can be divided into two subgroups: disorders of the peripheral nervous system (e.g., sacral herpes) or the central nervous sys...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0189-9
更新日期:2006-08-01 00:00:00
abstract::The neuropsychiatric symptoms and behavioral disorders affecting Parkinson's disease (PD) patients are common and disabling. A PD-specific interview-based 12-item scale, the Scale for Evaluation of Neuropsychiatric Disorders in Parkinson's Disease (SEND-PD), has been developed to assess the severity of neuropsychiatri...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-012-6490-x
更新日期:2012-11-01 00:00:00
abstract::Thinning of the retinal nerve fiber layer (RNFL) of clinically unaffected eyes is seen in patients with multiple sclerosis (MS). It is uncertain when this thinning occurs, and whether ongoing RNFL loss can be measured over time with optical coherence tomography (OCT). Using time-domain OCT, we studied 34 patients with...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5467-x
更新日期:2010-07-01 00:00:00
abstract::Hemichorea-hemiballism (HCHB) was infrequently related to cortical lesions such as tumor or infarction. Although functional derangement of the basal ganglia (BG) or the thalamus (Th) was suggested, pathomechanism of HCHB secondary to cortical lesions remains uncertain. We recruited the patients with HCHB secondary to ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-7096-7
更新日期:2013-12-01 00:00:00
abstract::Psychiatric complaints are common in Parkinson's disease (PD), and have a significant influence in disease outcome and quality of life. Little attention has been paid to psychiatric symptoms at early stage disease. We aimed to screen a population of early stage PD patients for psychiatric symptoms and to study the rel...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6140-8
更新日期:2012-01-01 00:00:00
abstract::Few regional and seasonal Guillain-Barré syndrome (GBS) clusters have been reported so far. It is unknown whether patients suffering from sporadic GBS differ from GBS clusters with respect to clinical and paraclinical parameters, HLA association and antibody response to glycosphingolipids and Campylobacter jejuni (Cj)...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8237-6
更新日期:2016-10-01 00:00:00
abstract::A 15-year-old boy with Tourette's syndrome exhibited severe involuntary self-mutilatory behavior. While clonidine effectively controlled the motor and phonic tics, it failed to ameliorate the self-mutilatory behavior. Administration of oxycodone (50 mg/day) combined with clonidine produced a dramatic reduction in the ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314429
更新日期:1986-06-01 00:00:00
abstract::Multiple system atrophy and progressive supranuclear palsy are disabling neurodegenerative disorders, also known as atypical parkinsonian syndromes. Currently, no health economic evaluations of these diseases are available. The objective of this study was to evaluate disease-related costs in German patients with multi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6028-7
更新日期:2011-10-01 00:00:00