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 Exons 41 and 42 of COL6A3 in 955 patients with isolated or combined dystonia or with another movement disorder with dystonic features. We identified nine heterozygous carriers of rare variants including five different missense mutations and an extremely rare synonymous variant. In these nine patients, we sequenced the remaining 41 coding exons of COL6A3 to test for a second mutation in the compound heterozygous state. In only one of them, a second rare variant was identified (Thr732Met + Pro3082Arg). Of note, this patient had been diagnosed with Parkinson´s disease (with dystonic posturing) due to homozygous PINK1 mutations. The COL6A3 mutations clearly did not segregate with the disease in the four affected siblings of this family. Further, there was no indication for a disease-modifying effect of the COL6A3 mutations since disease severity or age at onset did not correlate with the number of COL6A3 mutated alleles in this family. In conjunction with the relatively high frequency of homozygous carriers of reported mutations in publically available databases, our data call a causal role for variants in COL6A3 in isolated dystonia into question.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Lohmann K,Schlicht F,Svetel M,Hinrichs F,Zittel S,Graf J,Lohnau T,Schmidt A,Mir P,Krause P,Lang AE,Jabusch HC,Wolters A,Kamm C,Zeuner KE,Altenmüller E,Naz S,Chung SJ,Kostic VS,Münchau A,Kühn AA,Brüggemann N,Kldoi
10.1007/s00415-016-8046-ysubject
Has Abstractpub_date
2016-04-01 00:00:00pages
730-4issue
4eissn
0340-5354issn
1432-1459pii
10.1007/s00415-016-8046-yjournal_volume
263pub_type
杂志文章abstract::Muscle glucose-6-phosphate dehydrogenase (G6PD) deficiency is described in four clinically heterogeneous patients: an athlete who developed myoglobinuria after physical exercise; a 7-year-old, mildly mentally retarded boy, who had episodes of dark urine and high creatine kinase; and two brothers of Sardinian origin, t...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314498
更新日期:1989-05-01 00:00:00
abstract::In recent years, it has been widely recognised that modern doctors are not receiving the training they need to provide appropriate and effective palliative care. Deficiencies in care have been reported in several formal studies and, anecdotally, in many professional and popular lay publications. Doctors themselves hav...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/pl00007722
更新日期:1997-10-01 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::Using a novel trial design, we prospectively examined the effect of intravenous immunoglobulin in seven patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in a double-blind, placebo-controlled cross-over study. We suggest that the commonly used manual muscle testing and Rankin scale are not...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF00868527
更新日期:1996-03-01 00:00:00
abstract::During a period of 42 months, we studied the prevalence of epilepsy in a specific health district, composing by four towns with 98,405 inhabitants older than 10 years. This has been accomplished by a two-phase cross-sectional study. The prevalence rate observed was 4.12/1000 inhabitants for all types of epilepsy. No s...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150170091
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abstract::Several studies have reported infection as a possible risk factor for cervical artery dissection (CAD). We retrospectively analyzed several inflammatory parameters of CAD patients with the aim of detecting differences between spontaneous (n = 25) and traumatic (n = 18) CAD. In this case-control study, we observed sign...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0109-z
更新日期:2006-06-01 00:00:00
abstract::Chronic exposure to manganese may induce parkinsonism similar to idiopathic Parkinson's disease (PD). However, clinical manifestations of manganism also have some features different from PD. The mechanisms of manganese-induced parkinsonism remain not fully understood. (99m)Tc-TRODAT-1 is a cocaine analogue that can bi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-003-0214-1
更新日期:2003-11-01 00:00:00
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doi:10.1007/s00415-010-5535-2
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abstract::Whereas the effect of interferons (IFNs) on magnetic resonance imaging (MRI) outcome measures in patients with multiple sclerosis (MS) has been convincingly shown, little work has been done to define the between-patient heterogeneity of treatment response. Our aim was to assess the distribution of the effect of IFNbet...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1007/s00415-005-0885-x
更新日期:2005-12-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5891-y
更新日期:2011-06-01 00:00:00
abstract::The Analog Model was developed for use in patients with multiple sclerosis (MS) at an international roundtable meeting in 2001. Three key disease components are monitored, namely relapses, disability progression and magnetic resonance imaging activity. Its use provides a rapid, straightforward means of assessing the e...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-004-1512-y
更新日期:2004-09-01 00:00:00
abstract::Relapses are a characteristic clinical feature of multiple sclerosis (MS), but an appreciation of factors that cause them remains elusive. In this study, we have examined seasonal variation of relapse in a large population-based MS cohort and correlated observed patterns with age, sex, disease course, and climatic fac...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8485-0
更新日期:2017-06-01 00:00:00
abstract::Coenzyme Q10 (CoQ) was measured in serum and muscle of 17 patients with ophthalmoplegia plus (including 5 patients with Kearns-Sayre syndrome), in muscle of 9 patients with neurogenic atrophies, 5 patients with myositis, and 5 patients with progressive muscular dystrophies (including 1 patient with oculopharyngeal dys...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314404
更新日期:1989-02-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The use of early prognostic data provided by various scores in critically ill stroke patients remains unclear. We tested the performance of the Simplified Acute Physiology Score (SAPS) II in prediction of mortality of acute stroke patients in the NeuroCriticalCareUnit (NCCU). METHODS:During one ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0853-5
更新日期:2005-10-01 00:00:00
abstract::Idiopathic hypereosinophilic syndrome (IHES) is a primary haematological condition characterised by persistent, otherwise unexplained hypereosinophilia sufficient to cause organ damage. Various neurological complications are reported, but very few have mentioned CNS pathology and none has included CNS vasculitis. Our ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7720-9
更新日期:2015-05-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8441-z
更新日期:2017-05-01 00:00:00
abstract::Motor tests were performed in 50 HIV-infected patients in all stages according to the current CDC classification, but without any clinically evident central nervous system deficit, and the results compared with an age-matched control group. Patients were excluded from the study if there was alcohol or drug abuse, feve...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/BF00315660
更新日期:1990-10-01 00:00:00
abstract::Progressive multifocal leukoencephalopathy (PML) is a subacute demyelinating disease of the brain caused by the JC virus that occurs mainly in immunocompromised patients. The prognosis is very poor. As the lesion looks like non- specific leukoencephalopathy, making a diagnosis at the early stage is very difficult. We ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7500-y
更新日期:2014-12-01 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
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09829-w
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313402
更新日期:1982-01-01 00:00:00
abstract::Glycogen storage disease type II (GSDII) is a lysosomal storage disorder caused by acid alpha-1,4-glucosidase deficiency and associated with recessive mutations in its coding gene GAA. Few studies have provided so far a detailed phenotypical characterization in late onset GSDII (LO-GSDII) patients. Genotype-phenotype ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
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abstract::Mutations in the mitofusin 2 (MFN2) gene are a major cause of primary axonal Charcot- Marie-Tooth (CMT) neuropathy. This study aims at further characterization of cerebral white matter alterations observed in patients with MFN2 mutations. Molecular genetic, magnetic resonance imaging (MRI), magnetic resonance spectros...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0847-1
更新日期:2008-07-01 00:00:00
abstract::A clinical and electrophological study was performed on 30 patients with chronic carbon disulphide poisoning. Although the measurements of motor conduction velocity and of terminal latency were within the normal range in the subclinical stage, estimation of nerve excitability threshold showed distal motor hypoexcitabi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313208
更新日期:1980-01-01 00:00:00
abstract::It is well known that neurorehabilitation can reduce disability or improve handicap of people with multiple sclerosis (MS). The aim of this study was to evaluate the effectiveness of a short period (6 weeks) of a tailored, individualised outpatient rehabilitation program in people with progressive MS. A randomised-con...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/s00415-003-1097-x
更新日期:2003-07-01 00:00:00
abstract::Spinocerebellar ataxias (SCA) are a genetically heterogeneous group of neurodegenerative diseases characterised by progressive cerebellar ataxia, dysarthria and oculomotor abnormalities. Recently the prodynorphin (PDYN) gene was identified as the cause of SCA23 in four Dutch families displaying progressive gait and li...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-012-6721-1
更新日期:2013-03-01 00:00:00
abstract::Advances in molecular biology have resulted in novel therapy for neurofibromatosis 2-related (NF2) tumours, highlighting the need for robust outcome measures. The disease-focused NF2 impact on quality of life (NFTI-QOL) patient questionnaire was assessed as an outcome measure for treatment in a multi-centre study. NFT...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-014-7303-1
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:We characterised the clinical and neuro-otological characteristics of patients with Susac syndrome. METHODS:The medical records of 30 patients with Susac syndrome were reviewed for details of their clinical presentation and course, neuro-otological symptoms, investigation results including audiology and vest...
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pub_type: 杂志文章
doi:10.1007/s00415-020-10086-0
更新日期:2020-12-01 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::Parkinson's disease (PD) is associated with an increased risk of fragility fracture. FRAX and Qfracture are risk calculators that estimate the 10-year risk of hip and major fractures and guide definitive investigation for osteoporosis using dual X-ray absorptiometry (DEXA) imaging. It is unclear which PD patients shou...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7333-8
更新日期:2014-06-01 00:00:00