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 CMT type, CMT1A, is a 1.5 Mb chromosomal duplication at 17p12 that contains the gene PMP22. Only recently it has been realized that such copy number variants (CNV) are a widespread phenomenon and important for disease. However, it is not known whether CNVs play a wider role in hereditary peripheral neuropathies outside of CMT1A. In a phenotypically heterogeneous sample of 97 patients, we performed the first high-density CNV study of 34 genomic regions harboring known genes for hereditary peripheral neuropathies including the 17p12 duplication region, with comparative genomic hybridization (CGH) microarrays. We identified three CNVs that affected coding exons. A novel shorter form of a PMP22 duplication was detected in a CMT1A family previously tested negative in a commercial test. Two other CNVs in MTMR2 and ARHGEF10 are likely not disease associated. Our results indicate that CNVs are a rare cause for non-CMT1A CMT. Their potential relevance as disease modifiers remains to be evaluated. The present study design cannot rule out that specific CMT forms exist where CNVs play a larger role.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Huang J,Wu X,Montenegro G,Price J,Wang G,Vance JM,Shy ME,Züchner Sdoi
10.1007/s00415-009-5401-2subject
Has Abstractpub_date
2010-05-01 00:00:00pages
735-41issue
5eissn
0340-5354issn
1432-1459journal_volume
257pub_type
杂志文章abstract::The aim of this work was to determine whether survival changed during 2002-2009 at a French amyotrophic lateral sclerosis (ALS) center. We included all patients with ALS who were seen consecutively at the center from January 2002-May 2009. Participants were followed from date of first visit through death, date of cens...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6403-4
更新日期:2012-09-01 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::Biomarkers beyond clinical assessment are needed in patients who suffer from amyotrophic lateral sclerosis (ALS). Here, single-voxel proton magnetic resonance spectroscopy ((1)H MRS) of the gray matter of the motor cortex and the white matter including the pyramidal tracts was used to investigate concentrations of N-a...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0495-2
更新日期:2007-08-01 00:00:00
abstract::Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreic...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-002-0902-2
更新日期:2002-11-01 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::A 73-year-old woman presented with multifocal cerebral dysfunction of 1 month's duration. Cranial CT scanning revealed unusual widespread abnormalities. Brain biopsy showed amyloid angiopathy affecting vessels in the meninges and cerebral cortex, with associated granulomatous angiitis. There was no clinical evidence o...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314491
更新日期:1988-09-01 00:00:00
abstract::Patients in a minimally conscious state (MCS) show restricted signs of awareness but are unable to communicate. We assessed cerebral glucose metabolism in MCS patients and tested the hypothesis that this entity can be subcategorized into MCS- (i.e., patients only showing nonreflex behavior such as visual pursuit, loca...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6303-7
更新日期:2012-06-01 00:00:00
abstract::Freezing of gait (FOG) is a disabling motor symptom experienced by a large proportion of patients with Parkinson's disease (PD). While it is known that FOG contributes to lower health-related quality of life (HRQoL), previous studies have not accounted for other important factors when measuring the specific impact of ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7524-3
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVES:Evidences from either small series or spontaneous reporting are accumulating that SARS-CoV-2 involves the Nervous Systems. The aim of this study is to provide an extensive overview on the major neurological complications in a large cohort of COVID-19 patients. METHODS:Retrospective, observational analysis o...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10251-5
更新日期:2020-10-07 00:00:00
abstract::Augmented spinal nociception during the "off" phase has been observed early in Parkinson's disease further increasing with disease duration. To find out whether increased spinal nociception represents a premotor feature, experimental pain sensitivity was assessed in idiopathic REM-sleep behavior disorder (IRBD) patien...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8390-y
更新日期:2017-03-01 00:00:00
abstract::Bcl2-associated athanogene 3 (BAG3) gene mutations cause dilated cardiomyopathy and myofibrillar myopathy. Recently, a novel c.625C>T (p.Pro209Ser) mutation in BAG3 was reported to cause axonal Charcot-Marie-Tooth (CMT) disease in three families. Here, we describe two patients with adult-onset and moderate CMT in a Ch...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09680-8
更新日期:2020-04-01 00:00:00
abstract::A method for the preparation of a potent and specific peroxidase-labelled antihuman IgG antibody is described. CSF cells from patients with various neurological diseases were stained. Only in cases of inflammatory diseases was IgG detectable. The stained cells were so-called lymphoid cells. As the demonstrable IgG can...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313346
更新日期:1980-01-01 00:00:00
abstract::Parvalbumin (a calcium-binding protein)-immunoreactive (PV-Ir) neurons in the cerebral cortex were examined in 20 postmortem brains obtained from elderly controls and patients with Pick's disease (PD). The type of PV-Ir neurons and their distribution in control and PD brains were similar. The number of PV-Ir neurons i...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314780
更新日期:1991-07-01 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::A man, aged 63, had an illness which lasted 11 months from onset with pain under the left costal margin which radiated to the epigastrium, until his death from cardiac failure. His symptoms consisted principally of parasthesias and proximal weakness of both upper and lower extremities with atrophy of the shoulder and ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314720
更新日期:1978-04-14 00:00:00
abstract::Five patients are described who developed unilateral narrowing of the palpebral fissure that was aggravated by smiling. They had ischaemic lesions involving mainly the contralateral lenticulocapsular area. This rare but distinct symptom may be an action induced focal eyelid dystonia, and could be described as'smile-wi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150170179
更新日期:2001-05-01 00:00:00
abstract:BACKGROUND:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare early onset neurodegenerative disease that typically results in ataxia, upper motor neuron dysfunction and sensorimotor peripheral neuropathy. Dysarthria and dysphagia are anecdotally described as key features of ARSACS but the natu...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-8950-4
更新日期:2018-09-01 00:00:00
abstract:BACKGROUNDS:Wake-Up Stroke (WUS) patients are generally excluded from thrombolytic therapy (rTPA) due to the unknown time of stroke onset. This study aimed to investigate the effects of rTPA in WUS patients during every day clinical scenarios, by measuring ischemic lesion volume and functional outcomes compared to non-...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09603-7
更新日期:2020-03-01 00:00:00
abstract::Autonomic nervous system (ANS) involvement is frequently found in Parkinson's disease (PD), but its causal relationship to the disease itself and its medication is unclear. We evaluated the effects of PD medications on cardiovascular ANS functions. Heart rate (HR) responses to normal and deep breathing, the Valsalva m...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/s004150070075
更新日期:2000-11-01 00:00:00
abstract::Seventy-seven cases of the optic-spinal form of multiple sclerosis (OSMS) were collected from 6 institutes in 3 cities of Japan, and the clinical and MRI features were analyzed. Two-thirds of the OSMS patients had longitudinally extensive spinal cord MRI lesions (LESL), and had clinical features similar to those of re...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-006-0400-z
更新日期:2007-04-01 00:00:00
abstract:BACKGROUND:The increase in disease-modifying drugs (DMDs) allows individualization of treatment in relapsing multiple sclerosis (RMS); however, the long-term impact of different treatment sequences is not well established. This is particularly relevant for MS patients who may need to postpone more aggressive DMD strate...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-019-09531-6
更新日期:2019-12-01 00:00:00
abstract:OBJECTIVE:To determine the prevalence and risk factors for paroxysmal atrial fibrillation (PAF) diagnosis in non- cryptogenic ischemic stroke (CIS) patients. METHODS:In this pilot-prospective cohort study of non-CIS patients from September 2014 to September 2017, 53 patients were enrolled. 51/53 patients were implante...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-018-8982-9
更新日期:2018-10-01 00:00:00
abstract::The effects of left- and right-sided hemispheric brain infarction on variability in circadian blood pressure and cardiovascular measures were investigated in 35 patients to test for asymmetry of the sympathetic consequences of stroke. No significant differences regarding age, size of infarction or extent and frequency...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00878874
更新日期:1995-05-01 00:00:00
abstract::Three patients with postural and intention cerebellar tremor caused by a cerebellar infarction in the superior cerebellar artery distribution were studied; treatment with carbamazepine resulted in marked improvement. ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00328507
更新日期:1989-12-01 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::The clinicopathological findings of a 50-year-old man, who developed cervicothoracic syringomyelia at the age of 25 are presented. He was given radiation therapy at the age of 33. At the age of 57 he developed a foramen jugulare syndrome on the left, caused by a low grade leiomyosarcoma. Etiologically, the most attrac...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313150
更新日期:1980-01-01 00:00:00
abstract::The aim of the study was to identify the main factors that impact mobility impairment in multiple sclerosis (MS) patients in Italy. Clinicians from a large number of Italian MS centers took part in a Delphi process aimed at obtaining consensus statements among the participants. Large consensus was obtained for stateme...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-7230-6
更新日期:2014-03-01 00:00:00
abstract::The recent discovery of disease specific and pathogenic autoantibodies in neuromyelitis optica (NMO, Devic's disease) has revived the interest in this intriguing yet often devastating condition. While the history of classic multiple sclerosis has been studied extensively, only very little is known so far about the ear...
journal_title:Journal of neurology
pub_type: 历史文章,杂志文章
doi:10.1007/s00415-011-6355-8
更新日期:2012-07-01 00:00:00
abstract::Treatment of multiple sclerosis (MS) with interferon beta (IFNbeta) can be associated with the development of binding antibodies (BAbs) and neutralizing antibodies (NAbs). NAbs are a subset of BAbs that prevent IFNbeta from effectively binding to or activating its receptor, thereby blocking its biologic effects and in...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-004-1206-5
更新日期:2004-06-01 00:00:00
abstract::Atrial fibrillation (AF) is considered a predictor for severe stroke and poor outcome. The aim was to evaluate whether AF is associated with poor outcome in acute ischemic stroke (IS) patients treated with intravenous thrombolysis (IVT). In a retrospective study, 157 consecutive IS patients (98 males, mean age 67.3 +/...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5452-4
更新日期:2010-06-01 00:00:00