Abstract:
:Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are allelic X-chromosomal disorders of peroxisomal lipid metabolism due to mutations of the ABCD1-gene, leading, respectively, to leukoencephalopathy or myeloneuropathy in male patients. We report a family with two symptomatic carriers in subsequent generations who both suffer from symptoms of an AMN. In both patients, molecular genetic testing revealed a heterozygous c.1552C>T-transition (p.Arg518Trp) in exon 6 of ABCD1. Our observations underline the importance of identifying such symptomatic ALD carriers.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Guettsches AK,Kuechler A,Gal A,Schmitz W,Tegenthoff M,Vorgerd Mdoi
10.1007/s00415-010-5505-8subject
Has Abstractpub_date
2010-08-01 00:00:00pages
1394-5issue
8eissn
0340-5354issn
1432-1459journal_volume
257pub_type
信件abstract::Central nervous system localizations of sarcoidosis may be refractory to conventional treatment such as steroids and immunosuppressive drugs. Infliximab, a TNF-α antagonist chimeric antibody, has been shown to be effective for treatment of these localizations. The aim of this study was to evaluate the efficacy and saf...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8444-9
更新日期:2017-05-01 00:00:00
abstract::Laser Doppler is widely used to evaluate sympathetic vasoconstrictor function. Continuous wave (cw)-Doppler of the radial artery may be an alternative but less expensive approach to quantify sympathetically induced resistance changes in the peripheral vascular system. In order to compare the power of both methods, thi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-004-0471-7
更新日期:2004-08-01 00:00:00
abstract:OBJECTIVE:The variability of the severity and regional distribution of pathological process in basal ganglia (BG) and brainstem-cerebellar systems results in clinical heterogeneity and represents the motor subtype of multiple system atrophy (MSA). This study aimed to quantify spatial patterns of multimodal MRI abnormal...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-8874-z
更新日期:2018-07-01 00:00:00
abstract::The production and release of extracellular vesicles (EV) is a property shared by all eukaryotic cells and a phenomenon frequently exacerbated in pathological conditions. The protein cargo of EV, their cell type signature and availability in bodily fluids make them particularly appealing as biomarkers. We recently dem...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9022-5
更新日期:2018-11-01 00:00:00
abstract::The United Nations High Commissioner for Refugees (UNHCR) recognizes 43.7 million forcibly displaced persons and asylum seekers due to conflict and persecution worldwide. Neurological disorders have rarely been described in displaced persons but likely pose a significant burden of disease. We describe the disease spec...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6248-x
更新日期:2012-04-01 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
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-018-8984-7
更新日期:2018-10-01 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
pub_type: 杂志文章
doi:10.1007/BF00313718
更新日期:1984-01-01 00:00:00
abstract::Neuropsychological assessment is one of the main fields of activity of clinical neuropsychologists. Goals of this assessment are verification and description of cognitive and affective impairments as the consequence of brain damage. Included are examinations of basal and higher sensory functions, the intellectual prof...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-007-2004-7
更新日期:2007-05-01 00:00:00
abstract::We performed the first population-based case-control study on clinical risk factors and drug exposure in Guillain-Barré syndrome (GBS). Sixty patients with GBS were collected through an incidence survey performed in the Emilia-Romagna region of northern Italy. GBS patients were compared with 109 hospital controls (HC)...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050504
更新日期:1999-11-01 00:00:00
abstract::Eighteen patients with dural arteriovenous fistulas or intradural arteriovenous malformations underwent clinical and neurophysiological examination. Bladder disturbances, pain, sensory abnormalities and involvement of both upper and lower motor neurons were commonly observed. Abnormal findings were obtained both in el...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00878524
更新日期:1996-01-01 00:00:00
abstract::Dementia has a reversible cause in some cases, and these should be diagnosed without over-investigating the many patients with irreversible disease. We prospectively studied the prevalence of reversible dementia in a memory clinic, determined the added value of investigations compared with clinical examination and ass...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/pl00007724
更新日期:1997-01-01 00:00:00
abstract:OBJECTIVE:To investigate the efficacy of acupuncture on stroke recovery compared to an inert placebo. DESIGN:Placebo-controlled, randomised, clinical trial. SETTING:Post-stroke rehabilitation wards in five NHS hospitals in the UK. SUBJECTS:Patients between 4 and 10 days after their first stroke. INTERVENTIONS AND O...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s00415-008-0790-1
更新日期:2008-06-01 00:00:00
abstract:BACKGROUND:Volume loss in the deep gray matter (DGM) has been reported in patients with multiple sclerosis (MS) already at early stages of the disease and is thought to progress throughout the disease course. OBJECTIVE:To investigate the impact and predictive value of volume loss in DGM and thalamic subnuclei on disab...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09740-4
更新日期:2020-05-01 00:00:00
abstract::The purpose of this study is to monitor the development of anti-natalizumab antibodies to evaluate their first appearance in multiple sclerosis patients, since their presence has been associated with a reduction in the efficacy of the treatment and an increase of adverse events. A total of 134 multiple sclerosis patie...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-013-6991-2
更新日期:2013-09-01 00:00:00
abstract::In this work, we investigated motor network structure in patients affected by essential tremor (ET) with or without resting tremor, using probabilistic tractography of the cerebello-thalamo-basal ganglia-cortical loop. Twenty-five patients with ET, twenty-two patients with ET associated with resting tremor (rET), and ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8553-5
更新日期:2017-09-01 00:00:00
abstract::Small subcortical infarctions resulting from large-vessel disease are often observed. It is important to distinguish these from pure lacunar infarction resulting from small-vessel disease because the investigations and examinations differ. We investigated the differences on brain magnetic resonance imaging (MRI) betwe...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050584
更新日期:2000-04-01 00:00:00
abstract::Botulinum neurotoxin (BoNT) is an effective treatment for cervical dystonia (CD). Long-term changes of several variables, including the dose of BoNT, in these patients is largely unknown. We reviewed the clinical charts of 275 patients with CD treated with BoNT type A (BoNT-A) for at least 5 years since 1989 at ten te...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-010-5880-1
更新日期:2011-06-01 00:00:00
abstract::We analysed the CACNA1A gene, located on chromosome 19p13, in three unrelated families and one sporadic case with episodic ataxia type 2 (EA-2). In two of the families and the sporadic patient, novel truncating mutations, which disrupt the reading frame and result in a premature stop of the CACNA1A protein, were ident...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-002-0860-8
更新日期:2002-11-01 00:00:00
abstract::In order to learn more on the occurrence of pains and motor deficit in severe diabetic polyneuropathy we reviewed the data of a series of 30 diabetic patients with an uncommonly severe length-dependent diabetic polyneuropathy (LDDP). Extensive sensory loss predominated with pains and temperature sensations and affecte...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0999-z
更新日期:2008-11-01 00:00:00
abstract:RATIONALE:Phase I/II studies of autologous hematopoietic stem cell transplantation (HSCT) for multiple sclerosis ( MS) were initiated, based on results of experimental transplantation in animal models of multiple sclerosis and clinical observations in patients treated concomitantly for malignant disease. PATIENTS:Eigh...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00415-002-0800-7
更新日期:2002-08-01 00:00:00
abstract::Sixteen cerebrospinal fluid (CSF) specimens serially obtained during long-term follow-up of two patients with Devic's neuromyelitis optica (DNO) were compared with 65 CSF samples from patients with multiple sclerosis (MS). By statistical analysis, the CSF profile in DNO was found to differ from that observed in MS, ma...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314631
更新日期:1990-07-01 00:00:00
abstract::Stiff-person syndrome (SPS) is a rare condition of progressive muscular rigidity and spasm, frequently accompanied by other autoimmune conditions, an association which has been further strengthened by the discovery of anti-GAD antibodies and the response of SPS to immunotherapies. Intravenous immunoglobulin (IVIg) is ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6015-z
更新日期:2011-10-01 00:00:00
abstract::Global aphasia is described as a unitary syndrome which is characterized by a severe impairment of all linguistic capabilities. Speech production is extremely limited and consists of stereotyped phrases, recurring utterances or a few isolated words which are usually neologistically distorted. The patients are unable t...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF02430346
更新日期:1977-01-13 00:00:00
abstract::Various ancillary investigations can assist clinicians in the differential diagnosis of patients with parkinsonism. It is unknown which test offers greatest diagnostic value in clinical practice. We included 156 consecutive patients with parkinsonism, but with an initially uncertain diagnosis. At baseline, all patient...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7568-4
更新日期:2015-02-01 00:00:00
abstract::Whole genome screening is increasingly used to identify genetic risk factors for complex diseases. In this study, a genome wide linkage disequilibrium (LD) screen was performed in a cohort of Parkinson's disease (PD) patients from the UK (n = 195) using pooled DNA to facilitate efficient genotyping of 5546 microsatell...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0686-2
更新日期:2005-05-01 00:00:00
abstract::A 37-year-old man presented with an acute amnestic syndrome of Korsakoff's type and an upper brain-stem oculomotor syndrome. After a moderate improvement with steroid therapy, he developed progressive behavioural changes due to a frontal lobe syndrome, in addition to motor and visual impairment. Memory performance was...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00315338
更新日期:1991-09-01 00:00:00
abstract::Two previously healthy women are described who in their late thirties suffered transient strokelike episodes, consisting of initial headache and vomiting, with various subsequent neurological signs that were only partially reversible. Investigations revealed elevated serum creatine kinase, lactic acidosis, hypertrigly...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00818708
更新日期:1993-01-01 00:00:00
abstract::We report the effects of intravenous gamma-globulin (IVGG) in severe Guillain-Barré syndrome (GBS) in a small open study. Seven patients were given IVGG (0.4 g/kg/day) for 5 consecutive days. At the start of treatment all had progressing limb weakness and none could stand unaided. Within 24 h all but one patient start...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00838447
更新日期:1993-01-01 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
pub_type: 杂志文章
doi:10.1007/s00415-016-8098-z
更新日期:2016-06-01 00:00:00
abstract::Levamisole seems to regulate cell-mediated immunity by restoring T-cell function. Since a deficiency of T lymphocytes has been described by various authors in multiple sclerosis patients. Of the 85 patients involved in the trial, evaluation of functional and neurological scores was possible in 54 (32 with placebo and ...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/BF00313411
更新日期:1982-01-01 00:00:00