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 pathogenesis of the spasticity is discussed.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Meshram CM,Sawhney IM,Prabhakar S,Chopra JSdoi
10.1007/BF00314163subject
Has Abstractpub_date
1986-10-01 00:00:00pages
304-5issue
5eissn
0340-5354issn
1432-1459journal_volume
233pub_type
杂志文章abstract::Sensory trick may relieve dystonic symptoms in patients with idiopathic cervical dystonia (CD). We investigated the patterns of brain functional MRI (fMRI) during resting state, sensory trick simulation and sensory trick imagination in CD patients both with and without an effective sensory trick. We recruited 17 CD pa...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09683-5
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVE:As metabolic and structural changes in frontotemporal-subcortical pathways have been reported in patients with obsessive-compulsive disorders, we investigated the correlation between complex compulsive behaviour (CCB) and the distribution of atrophy in a group of 90 patients with frontotemporal dementia (FTD)...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150170049
更新日期:2001-11-01 00:00:00
abstract::Polymerase chain reaction (PCR) based automated high-resolution fragment analysis of rearranged immunoglobulin heavy-chain genes is a highly sensitive means for identifying clonal B-cell responses. We used this technique to distinguish polyclonal inflammatory from monoclonal neoplastic B-cell populations in the cerebr...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150170247
更新日期:2001-02-01 00:00:00
abstract::Freezing of gait (FOG) in Parkinson's disease (PD) likely results from dysfunction within a complex neural gait circuitry involving multiple brain regions. Herein, cerebellar activity is increased in patients compared to healthy subjects. This cerebellar involvement has been proposed to be compensatory. We hypothesize...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8479-y
更新日期:2017-05-01 00:00:00
abstract:BACKGROUND:Spinocerebellar ataxias (SCAs) are rare dominantly inherited neurodegenerative disorders that lead to severe disability and premature death. OBJECTIVE:To better characterize the natural history of the most common SCAs, SCA1, SCA2, SCA3 and SCA6, we performed a meta-analysis of literature to determine diseas...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-020-09815-2
更新日期:2020-04-07 00:00:00
abstract::Applying microarray technology to identify new diagnostic and prognostic markers in peripheral blood cells (PBC) after therapeutic intervention opens great perspectives regarding patient subclassification. Three recombinant products of the pleiotropic agent interferon beta (rIFN-beta) are available for disease modifyi...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-008-6010-1
更新日期:2008-12-01 00:00:00
abstract:OBJECTIVES:Resistance to activated protein C (APC) is the most frequent cause of thrombophilia and a well known risk factor for deep and cerebral vein thrombosis. Its causative role in ischaemic stroke is still a matter of debate. We undertook this study to determine the prevalence of APC-resistance in a cohort of cons...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150170117
更新日期:2001-08-01 00:00:00
abstract::Alien limb syndrome following stroke within the territory of the posterior cerebral artery is exceedingly rare. A right-handed female experienced left homonymous hemianopia, visuospatial neglect, and proprioceptive loss of her left hemi-body. She experienced unintended, involuntary movements of her left arm and hand, ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09543-2
更新日期:2020-01-01 00:00:00
abstract::The diagnosis of natalizumab-associated progressive multifocal leukoencephalopathy (PML) in multiple sclerosis patients in an asymptomatic stage is crucial since it is associated with better clinical outcome measures. Current diagnostic criteria on PML diagnosis in asymptomatic patients require the detection of JC vir...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7336-5
更新日期:2014-06-01 00:00:00
abstract::A linkage and association of the CD45 (protein-tyrosine phosphatase, receptor-type C) C77G polymorphism and multiple sclerosis (MS) has been found in some studies but not in others. We analysed the C77G polymorphism in MS patients from the genetically homogeneous population of Sardinia. Using the transmission disequil...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-004-0485-1
更新日期:2004-09-01 00:00:00
abstract::Brain metastases occur in 20-40% of patients with cancer and their frequency has increased over time. Lung, breast and skin (melanoma) are the commonest sources of brain metastases, and in up to 15% of patients the primary site remains unknown. After the introduction of MRI, multiple lesions have outnumbered single le...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-002-0870-6
更新日期:2002-10-01 00:00:00
abstract::Hereditary peripheral neuropathies present a group of clinically and genetically heterogeneous entities. All known forms, including the various forms of Charcot-Marie-Tooth disease (CMT) are characterized as Mendelian traits and over 35 genes have been identified thus far. The mutational mechanism of the most common C...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-009-5401-2
更新日期:2010-05-01 00:00:00
abstract::Current findings suggest that multipotent stem cells may be suitable for cell replacement therapies in the treatment of neurodegenerative disorders. Embryonic stem (ES) cells are pluripotent cells isolated from the inner cell mass of the preimplantation blastocyst, which give rise to all cells in the organism. Similar...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-002-1307-y
更新日期:2002-10-01 00:00:00
abstract::The similar localization of intracranial calcification in hypoparathyroidism and in Fahr disease without parathyroid gland disorder suggests that in these two disorders the pathomechanism of calcium phosphate deposition in the brain may be similar. It may be that in Fahr disease some factors, such as chronic respirato...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314315
更新日期:1988-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Protein Z (PZ), a vitamin Kdependent protein, plays a role in inhibiting coagulation. Its plasma level or PZ gene polymorphisms have been discussed as risk factors for stroke with conflicting results reported between various studies. Only one of these polymorphisms was studied in a cohort of pati...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0958-8
更新日期:2008-10-01 00:00:00
abstract::Thirty-seven Japanese autopsy cases with diffuse Lewy body disease (DLBD) were reviewed from a clinicopathological viewpoint. Based on the neuropathological finding of whether or not many concomitant senile plaques (SPs) and/or neurofibrillary tangles (NFTs) are present. DLBD is divided into two forms: a common form a...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF00314594
更新日期:1990-06-01 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::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
pub_type: 杂志文章
doi:10.1007/s00415-012-6625-0
更新日期:2013-01-01 00:00:00
abstract::The development of Guillain-Barré syndrome is reported in a patient, who had previously received botulinum toxin type A injections into both orbicularis oculi muscles to treat idiopathic blepharospasm. The possibility of a causal relationship is discussed with consideration of the literature on adverse effects of vacc...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00319673
更新日期:1990-02-01 00:00:00
abstract::Central nervous system (CNS) involvement in systemic lupus erythematosus (SLE) remains difficult to diagnose, particularly since structural abnormalities may not be revealed by magnetic resonance imaging (MRI). Glucose utilisation was measured by positron emission tomography (PET) in 35 SLE patients to detect signs of...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050071
更新日期:1997-03-01 00:00:00
abstract::Evoked urethral and anal responses are produced by electrical stimulation of penis, bladder neck and anus. Latency and duration of the responses after bladder neck and anal stimulation are greatly dependent on stimulus parameters, suggesting a polysynaptic reflex; penile stimulation probably involves an oligosynaptic ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313567
更新日期:1982-01-01 00:00:00
abstract::Degeneration of central dopaminergic neurons is the most characteristic pathological feature of Parkinson's disease. It remains to be established to what extent these lesions explain the motor, cognitive and affective disorders observed in patients, but there are now some interesting clues to a possible solution. ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF00819560
更新日期:1992-01-01 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:BACKGROUND:Sleep disorders can occur in early Parkinson's disease (PD). However, the relationship between different sleep disturbances and their longitudinal evolution has not been fully explored. OBJECTIVE:To describe the frequency, coexistence, and longitudinal change in excessive daytime sleepiness (EDS), insomnia,...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10140-x
更新日期:2021-01-01 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
pub_type: 杂志文章
doi:10.1007/BF00314035
更新日期:1985-01-01 00:00:00
abstract::Suicide is a leading cause of death in Huntington's disease (HD), following pneumonia. Up to one-fifth of individuals with HD report suicidal ideation. Identifying the risk factors of suicidal ideation in this clinical population is thus pivotal. Here, we review the literature on prevalence rates and risk factors of s...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-018-9013-6
更新日期:2018-11-01 00:00:00
abstract:OBJECTIVE:To characterize the relation between brain functional connectivity and disability in patients with multiple sclerosis; to investigate the existence of critical values of both disability and functional connectivity corresponding to exhaustion of functional adaptive mechanisms. METHODS:Hundred-and-nineteen pat...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9075-5
更新日期:2018-12-01 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::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
pub_type: 杂志文章
doi:10.1007/s00415-010-5780-4
更新日期:2011-03-01 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