Abstract:
OBJECTIVE:Patients with classic ataxia-telangiectasia (A-T) generally die in the second or third decade of life. Clinical descriptions of A-T tend to focus on the symptoms at presentation. However, during the course of the disease, other symptoms and complications emerge. As long-term survivors with classic A-T develop a complex multisystem disorder with a largely unknown extent and severity, we aimed to comprehensively assess their full clinical picture. METHODS:Data from Dutch patients with classic A-T above the age of 30 years were retrospectively collected. In addition, we searched the literature for descriptions of classic A-T patients who survived beyond the age of 30 years. RESULTS:In the Dutch cohort, seven classic A-T patients survived beyond 30 years of age. Fourteen additional patients were retrieved by the literature search. Common problems in older patients with classic A-T were linked to ageing. Most patients had pulmonary, endocrine, cardiovascular, and gastro-intestinal problems. All patients had a tetraparesis with contractures. This led to immobilization and frequent hospital admissions. Most patients expressed the wish to no longer undergo intensive medical treatments, and waived follow-up programs. CONCLUSIONS:Paucity of descriptions in the literature, and withdrawal from medical care complicate the acquisition of follow-up data on the natural history of long-term survivors. Irrespective of these limitations, we have obtained impression of the many problems that these patients face when surviving beyond 30 years of age. Awareness of these problems is needed to guide follow-up, counselling, and (palliative) care; decisions about life-prolonging treatments should be well considered.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
van Os NJH,van Deuren M,Weemaes CMR,van Gaalen J,Hijdra H,Taylor AMR,van de Warrenburg BPC,Willemsen MAAPdoi
10.1007/s00415-019-09641-1subject
Has Abstractpub_date
2020-03-01 00:00:00pages
830-837issue
3eissn
0340-5354issn
1432-1459pii
10.1007/s00415-019-09641-1journal_volume
267pub_type
杂志文章abstract::The etiology of spontaneous cervical artery dissection (sCAD) is unknown. An underlying connective tissue disorder has been suggested. As a collagen disease is conceivable several genes encoding fibrillar collagens have been condsidered as candidate genes for sCAD. We analysed the COL3A1 gene in patients with spontane...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-002-0745-x
更新日期:2002-07-01 00:00:00
abstract:BACKGROUND:Propranolol is recommended as first-line treatment for preventing migraine attacks; acupuncture has not been compared with propranolol in a head-to-head trial. OBJECTIVE:To compare acupuncture with propranolol using indirect treatment comparison meta-analysis. METHOD:We searched MEDLINE, EMBASE, and Cochra...
journal_title:Journal of neurology
pub_type: 杂志文章,meta分析
doi:10.1007/s00415-019-09510-x
更新日期:2020-01-01 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::This article describes the clinical features of anterior semicircular canal benign paroxysmal positional vertigo (AC-BPPV) and a new therapeutic maneuver for its management. Our study was a retrospective review of cases from an ambulatory tertiary referral center. Thirteen patients afflicted with positional paroxysmal...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-009-5208-1
更新日期:2009-11-01 00:00:00
abstract::Parkinson's disease (PD) is characterised both clinically and pathologically by features that distinguish it from other parkinsonian disorders including, for instance, multiple system atrophy and progressive supranuclear palsy. The aetiologies of PD includes both genetic and environmental influences. Several single ge...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-011-6016-y
更新日期:2011-05-01 00:00:00
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::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: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::Thirteen patients with subacute sclerosing panencephalitis (S.S.P.E.) at different stages of the disease were admitted for transfer factor treatment. The transfer factor was prepared from non-selected blood bank donors. The activity of the transfer factor was tested in patients with diseases other than S.S.P.E. and wa...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00312462
更新日期:1975-12-02 00:00:00
abstract:OBJECTIVE:We aimed to assess the effectiveness of conservative treatments in children with tension-type headaches (TTH). METHOD:We searched Medline, Embase and the Cochrane Library and performed reference checking. Two independent authors assessed trial quality and extracted data. Analysis was carried out according to...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-005-0940-7
更新日期:2005-10-01 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::Specific mutations in COL6A3 have recently been reported as the cause of isolated recessive dystonia, which is a rare movement disorder. In all patients, at least one mutation was located in Exons 41 and 42. In an attempt to replicate these findings, we assessed by direct sequencing the frequency of rare variants in E...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8046-y
更新日期:2016-04-01 00:00:00
abstract::Internuclear ophthalmoplegia (INO) indicates a lesion involving the medial longitudinal fasciculus (MLF) that interconnects the abducens nucleus and medial rectus subnucleus of the oculomotor nuclear complex. In fact, rostral-caudal localization value of the INO is often limited except when it accompanies symptoms and...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8088-1
更新日期:2016-05-01 00:00:00
abstract::We discuss two cases receiving different anti-tumornecrosis-factor alpha antagonists (anti-TNF-alpha); one for psoriatic arthritis (PA) and the other for ankylosing spondylitis (AS). Due to neurological symptoms cerebral magnetic resonance imaging (MRI) was performed and cerebral lesions were detected. Our interpretat...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-6020-z
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND:Spontaneous cervical artery dissections (sCAD) are often preceded by infections. However, existing data about inflammatory parameters remained inconsistent. Remarkably, concurrent information about the coagulation system, whose affection seems also reasonable to cause ischaemic events, are still lacking in s...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8696-4
更新日期:2018-02-01 00:00:00
abstract:OBJECTIVE:Crossed aphasia (CA), usually referred to as an acquired language disturbance, is caused by a lesion in the cerebral hemisphere ipsilateral to the dominant hand, and the exact mechanism is not clear. The development of handedness is influenced by education and training and the impact of habitualization, while...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-8901-0
更新日期:2018-07-01 00:00:00
abstract::The highest risk of subsequent stroke after a TIA occurs within the first week after the index event. However, the risk of stroke recurrence (SR) remains high during the first year of follow-up. We studied the temporal pattern and predictors of SR (at 7 days and from 7 days to 1-year follow-up). Between April 2008 and...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7390-z
更新日期:2014-08-01 00:00:00
abstract::The follow-up of neurophysiological tests (brain-stem auditory evoked potentials; blink reflex; sensory, motor and visual evoked potentials) and CT was investigated in 21 patients with late-onset cerebellar ataxia (CA) or multiple system atrophy. The study included an initial investigation and a follow-up examination ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00857523
更新日期:1993-01-01 00:00:00
abstract::Normal pressure hydrocephalus (NPH) is characterised by gait disturbance, urinary incontinence and dementia. Even though dementia is a cardinal symptom of NPH, there is few data available concerning cognitive functioning. The aim of this observational case-control study was to evaluate the use of neuropsychological (N...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7489-2
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Parkinson's disease (PD) reduces independence and quality of life through deterioration of upper limb motor function. Transcranial direct current stimulation (tDCS) may offer an alternative, adjunctive therapy for PD. However, the efficacy of tDCS for upper limb motor rehabilitation in PD is unkn...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-019-09385-y
更新日期:2020-12-01 00:00:00
abstract::Brains from 54 patients with organic dementia were examined systematically. As in previous investigations a predominance of Alzheimer type changes was observed. Seventeen patients showed Lewy bodies in the nucleus basalis, the substantia nigra and the locus coeruleus as well as other lesions of parkinsonian type. In 5...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313858
更新日期:1986-04-01 00:00:00
abstract:BACKGROUND:Classifying and diagnosing peripheral vestibular disorders based on their symptoms is challenging due to possible symptom overlap or atypical clinical presentation. To improve the diagnostic trajectory, gadolinium-based contrast-enhanced magnetic resonance imaging of the inner ear is nowadays frequently used...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-020-10278-8
更新日期:2020-12-01 00:00:00
abstract::Patients with multiple system atrophy (MSA) often have evidence of compromised gastrointestinal motility. Ghrelin is a gut hormone that influences gastrointestinal motility in humans. The aim of this study was to determine whether ghrelin secretion is affected in MSA patients, and to investigate the relation between g...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-6944-9
更新日期:2013-08-01 00:00:00
abstract::We assessed the prevalence of vertebral artery (VA) stenosis or occlusion and its influence on outcome in patients with acute basilar artery occlusion (BAO). We studied 141 patients with acute BAO enrolled in the Basilar Artery International Cooperation Study (BASICS) registry of whom baseline CT angiography (CTA) of ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7583-5
更新日期:2015-02-01 00:00:00
abstract::Circulating and cerebrospinal fluid (CSF) neurofilament light chain (NfL) levels represent a reliable indicator of disease activity and axonal damage in different neuroinflammatory conditions. Recently, high CSF NfL levels have been detected in active autoimmune encephalitis, as opposed to significant lower levels aft...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09306-z
更新日期:2019-07-01 00:00:00
abstract::Sera from 23 patients with acute Guillain Barré syndrome (GBS), 15 patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and from 40 age-matched blood donors were analysed for antibodies to acidic glycosphingolipids from human brain and peripheral nerve. Antibodies to ganglioside LM1, the majo...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00315684
更新日期:1991-04-01 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::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::Cerebral palsy (CP) continues to be a major problem in India. The present study provides an insight into the various clinical and neuroradiological correlates of CP. The study included 102 children with CP and was subjected to magnetic resonance imaging (MRI) of the brain. Forty-seven (46%) patients belonged to the 1-...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5782-2
更新日期:2011-03-01 00:00:00
abstract::There has been a resurgence in the use of functional neurosurgery for Parkinson's disease. An important factor that has played a role in this development is the recent understanding of the functional anatomy of the basal ganglia including a knowledge of the changes in the activities of neurons in the internal segment ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF03161079
更新日期:1999-09-01 00:00:00