Abstract：
:The objective of this study is to determine the current distribution of clinical phenotypes and to estimate future trends of ALS incidence in Western societies. We report on a clinical-epidemiological registry with a capture-recapture rate of >80% and population-based case-control study in ALS patients in South Western Germany. 1163 incidents of ALS were registered. Clinical and neuropsychological data were prospectively collected from 699 cases. The mean age at onset was 66.6 (SD = 11.6) years in prospective cases (N = 699). The site of onset was more frequently bulbar (34.1%) than lumbosacral (30.7%), cervical (27.0%), or thoracic (3.1%). Cognitive deficits (ranging from 27.5 to 42.1%, depending on the screening instrument) and behavioral changes (29%) were frequently detected. The incidence rate dropped markedly after 79 years of age, and bulbar onset as well as cognitive impairment were more frequent in ALS cases >75 years. The mean survival time of ALS cases from first paresis was 31 months. The age-standardized incidence rate (ASR) of ALS in 2012/2013 was found to be 2.4 (95% CI 2.2-2.7) per 100,000 person-years (resulting in an ASR of 3.1/100,000 with 100% coverage). Based on the predicted age distribution of the German population, the incidence of ALS was estimated to be 4.5/100,000 for men and 3.3/100,000 for women in the year 2050. ALS prevalence will rise to about 9.2-9.8/100,000 person-years in Germany in 2050. An increased proportion of patients with bulbar onset and/or cognitive deficits can be used as basic epidemiologic data on ALS for future health care decisions.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Rosenbohm A,Peter RS,Erhardt S,Lulé D,Rothenbacher D,Ludolph AC,Nagel G,ALS Registry Study Group.doi
10.1007/s00415-017-8413-3subject
Has Abstractpub_date
2017-04-01 00:00:00pages
749-757issue
4eissn
0340-5354issn
1432-1459pii
10.1007/s00415-017-8413-3journal_volume
264pub_type
杂志文章abstract：OBJECTIVE:To explore the value of olfactory identification deficits as a predictor of cerebral β-amyloid status and other markers of brain health in cognitively normal adults aged ~ 70 years. METHODS:Cross-sectional observational cohort study. 389 largely healthy and cognitively normal older adults were recruited from...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-020-10004-4
更新日期：2020-11-01 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：:Extra- and intraneural ganglionic cysts rarely involved peripheral nerves. They are found in the neighbourhood of large joints. Intraneural cysts prefer the deep peroneal nerve and cause intermittent pain and severe nerve damage. The ulnar nerve is affected most often at the wrist. There are different types of distal ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00314606
更新日期：1975-06-09 00:00:00
abstract：:Nystagmus is a rhythmical rotation of the eyeball. Its characteristics can be defined mathematically by the axis of rotation and the angular velocity around this axis. We analysed the axis of rotation for the nystagmus in benign paroxysmal positional vertigo (BPPV) to elucidate its pathophysiology. Thirteen patients w...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-002-0905-z
更新日期：2002-12-01 00:00:00
abstract：:Vitamin B(12) (VitB(12), cobalamin) deficiency has been associated with various neuropsychiatric conditions, such as peripheral neuropathy, subacute combined degeneration, affective disorders, and cognitive impairment. Current assays analyze vitamin B(12), of which only a small percentage is metabolically active. Meas...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-010-5764-4
更新日期：2011-03-01 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：:Quality of life is an important issue in the treatment of Parkinson's disease. Both general and disease specific quality of life scales are now being used in interventional trials. In the Sinemet CR First trial, the long-acting preparation was found to be superior to the immediate release preparation in several measur...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/pl00007735
更新日期：1998-05-01 00:00:00
abstract：OBJECTIVE:Five different calliper methods for assessing the degree of carotid artery stenosis and visual estimation ("eyeballing") of postmortem carotid arteriograms were compared with the planimetric gold standard of the area reduction at the site of the stenosis. METHODS:During autopsy 53 carotid specimens were remo...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-005-0703-5
更新日期：2005-05-01 00:00:00
abstract：:PNPLA6 mutations, known to be associated with the development of motor neuron phenotypes, have recently been identified in families with Boucher-Neuhäuser syndrome. Boucher-Neuhäuser is a rare autosomal recessive syndrome characterized by the co-occurrence of cerebellar ataxia, hypogonadotropic hypogonadism, and chori...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-014-7516-3
更新日期：2014-12-01 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：:We review the neuronal antibodies described in CNS disorders in order to clarify their diagnostic value, emphasize potentials pitfalls and limitations in the diagnosis of paraneoplastic neurological syndromes (PNS), and examine the current evidence for a possible pathogenic role. We propose to classify the neuronal an...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-009-5431-9
更新日期：2010-04-01 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：:Three cases of Fahr's syndrome are described. All patients had disturbances of calcium metabolism and had had a meningoencephalitis in childhood. It is suggested that gliovascular changes, induced by cerebral inflammation, can later facilitate the occurrence of calcification of the striopallidodentate system when abno...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313985
更新日期：1986-02-01 00:00:00
abstract：:Apoptotic deletion of autoreactive T-cells is defective in patients with multiple sclerosis (MS). Glatiramer acetate (GA) treatment seems to restore apoptosis of detrimental T-cells. We analyzed the mitochondria membrane pro- (Bax) and anti-apoptotic (Bcl- 2) and cytosolic pro-apoptotic (Cyt-c, APAF-1) proteins expres...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-005-0965-y
更新日期：2006-02-01 00:00:00
abstract：INTRODUCTION:The spinocerebellar ataxias (SCAs), are rare neurodegenerative disorders caused by distinct genetic mutations. Clinically, the SCAs are characterised by progressive ataxia and a variety of other features, including cognitive dysfunction. The latter is consistent with a growing body of evidence supporting a...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-008-0680-6
更新日期：2008-03-01 00:00:00
abstract：:We report a very rare case of Schwartz-Jampel syndrome associated with von Willebrand's disease. This association might be coincidental because of the different modes of inheritance of the two disorders. However, we speculate that there might be some link between the two disorders, for example in the locus of the affe...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00314041
更新日期：1985-01-01 00:00:00
abstract：BACKGROUND:Stroke has a major impact on survivors. Our study was designed to describe the mental status and health-related quality of life (HRQoL) in long-term survivors of TIA or minor ischaemic stroke (MIS) and evaluate associations of mental and physical factors with HR-QoL. METHODS:A random sample of the 10-year s...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-006-0480-9
更新日期：2007-08-01 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：:Forty-four patients (mean age 66, SD 8 years) with either clinical evidence of a focal lacunar syndrome (n = 36) or with disorders of memory or gait (n = 8) in the presence of a lacunar infarct on CT were studied for cognitive functioning and for the presence of white matter lesions on MRI. MR images were assessed by ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF02444014
更新日期：1996-02-01 00:00:00
abstract：:Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder of progressive heterotopic ossification (HO) caused by a recurrent activating mutation of ACVR1/ALK2, a bone morphogenetic protein (BMP) type I receptor. FOP is characterized by progressive HO, which is associated with inflammation in the setting o...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-012-6563-x
更新日期：2012-12-01 00:00:00
abstract：:Spinocerebellar ataxia (SCA) type 7 is an autosomal dominant disorder characterized by neural loss, mainly in the cerebellum and regions of the brainstem and particularly the inferior olivary complex. This neurodegeneration disease is associated with expansion of unstable CAG repeats within the 5'-translated region of...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s004150070131
更新日期：2000-08-01 00:00:00
abstract：:Neurological manifestations in pandemics frequently cause short and long-term consequences which are frequently overlooked. Despite advances in the treatment of infectious diseases, nervous system involvement remains a challenge, with limited treatments often available. The under-recognition of neurological manifestat...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-020-10261-3
更新日期：2020-10-26 00:00:00
abstract：:Although numerous clinical, laboratory, and pharmacological variables have been reported as significant risk factors for critical illness polyneuromyopathy (CIPM), there is still no consensus on the aetiology of this condition. Objectives of the study were to assess the clinical and electrophysiological incidence and ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-005-0654-x
更新日期：2005-03-01 00:00:00
abstract：:We examined the influence of alleles at the HLA loci, previously found to be associated with multiple sclerosis (MS) in Sardinia, on the clinical course of the disease in 835 relapsing (R) and 100 primary progressive (PP) patients. Multivariate analysis was carried out on predisposing 0301 or non-associated DPB1 allel...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-005-0957-y
更新日期：2006-02-01 00:00:00
abstract：:Stavudine (2',3'-didehydro-3'deoxythymidine) is a pyrimidine analogue that may be of great value in combination antiretroviral therapy (ART) for treating patients infected with human immunodeficiency virus type 1 (HIV-1). We assessed potential neurotoxic side effects by comparing peripheral nerve function in patients ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s004150050336
更新日期：1999-03-01 00:00:00
abstract：:The frequency of malignant diseases among 1866 living and 340 deceased multiple sclerosis (MS) patients was investigated in Finland. The study revealed a low prevalence (0.64%) and mortality (0.07%) rate of cancer among MS patients. The difference between MS patients and general population was significant. The highest...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313623
更新日期：1977-10-07 00:00:00
abstract：:The experience of music is difficult to study objectively. Here we describe a detailed analysis of musical hallucinations developing after a probable brainstem stroke in an 83 year old musician who was able to describe and notate the hallucinations. The hallucinations comprised simple, repetitive melodic and rhythmic ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-006-0167-2
更新日期：2006-08-01 00:00:00
abstract：OBJECTIVES:A study of cognitive, psychological and social aspects in benign multiple sclerosis (MS). Methods One hundred and sixty three patients with benign MS (defined as disease duration > or = 15 years and Expanded Disability Status Scale (EDSS) score < or = 3.0 ) underwent neuropsychological testing on the Rao's B...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-006-0161-8
更新日期：2006-08-01 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：:Mutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing s...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-005-0768-1
更新日期：2005-08-01 00:00:00
