Abstract:
OBJECTIVE:To conduct complex segregation analyses of Parkinson's disease (PD).
METHODS:Data on the familial aggregation of PD remain conflicting. We conducted a historical cohort study of 1,234 relatives of 162 patients with PD representative of people of Olmsted County, MN, and of 3,009 relatives of 411 patients with PD referred to the Mayo Clinic. Relatives were interviewed and screened for parkinsonism either directly or through a proxy, those who screened positive were examined, or a copy of their medical record was obtained to confirm the diagnosis. For subjects who resided in Olmsted County, additional information was obtained from the archives of the Olmsted County Historical Society and from a records-linkage system.
RESULTS:Thirty-two relatives of population-based probands and 69 relatives of referral patients developed PD (101 in total). Combining population-based and referral samples, the model that best explained the familial clustering of PD overall was a major gene with additive effect on the penetrance. This model predicted an average decrease in age at onset of PD of approximately 18 years for each copy of the putative high-risk allele. The best fitting model for younger onset PD (age
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
McDonnell SK,Schaid DJ,Elbaz A,Strain KJ,Bower JH,Ahlskog JE,Maraganore DM,Rocca WAdoi
10.1002/ana.20844subject
Has Abstractpub_date
2006-05-01 00:00:00pages
788-95issue
5eissn
0364-5134issn
1531-8249journal_volume
59pub_type
杂志文章abstract:OBJECTIVE:Low vitamin D status at birth may be associated with risk of adult onset multiple sclerosis, but this link has not been studied directly. We assessed the relation between neonatal vitamin D concentrations, measured in stored blood samples, and risk of multiple sclerosis. METHODS:This was a population-based c...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24210
更新日期:2014-09-01 00:00:00
abstract::We reviewed the records of 160 consecutive patients with glioblastoma and anaplastic astrocytoma to evaluate the long-term consequences of radiation therapy and chemotherapy. We defined long-term survivors as those patients with glioblastoma or anaplastic astrocytoma who lived at least 100% longer than median survival...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280614
更新日期:1990-12-01 00:00:00
abstract::In Alzheimer's disease (AD), loss of cortical and hippocampal choline acetyltransferase (ChAT) activity has been correlated with dementia severity and disease duration, and it forms the basis for current therapies. However, the extent to which reductions in ChAT activity are associated with early cognitive decline has...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10069
更新日期:2002-02-01 00:00:00
abstract::Intellectual disability is common and is associated with significant morbidity. Until the latter half of the 20th century, there were no efficacious treatments. Following initial breakthroughs associated with newborn screening and metabolic corrections, little progress was made until recently. With improved understand...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.24002
更新日期:2013-09-01 00:00:00
abstract:OBJECTIVE:Multiple sclerosis (MS) is characterized by demyelination centered around cerebral veins. Recent studies suggested this topographic pattern may be caused by venous congestion, a condition termed chronic cerebrospinal venous insufficiency (CCSVI). Published sonographic criteria of CCSVI include reflux in the d...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22085
更新日期:2010-08-01 00:00:00
abstract::Patients with senile dementia of the Alzheimer type frequently have difficulty performing visual tasks. These difficulties may be due, at least partially, to degenerative changes in both the primary visual pathway and the visual association areas. To determine whether retinal ganglion cell dysfunction contributes to v...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410260208
更新日期:1989-08-01 00:00:00
abstract:OBJECTIVE:Paroxysmal hemicrania (PH) is a severe, strictly unilateral headache that lasts 2 to 30 minutes, occurs more than five times daily, is associated with trigeminal autonomic symptoms, and is exquisitely responsive to indomethacin. The purpose of the study was to determine the brain structures active in PH. MET...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.20763
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVE:Amyotrophic lateral sclerosis (ALS) is a motor neuron disease whose pathophysiological deficits, causing impairment in motor function, are largely unknown. Here we propose that hydrogen sulfide (H2 S), as a glial-released inflammatory factor, contributes to ALS-mediated motor neuron death. METHODS:H2 S conce...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24372
更新日期:2015-04-01 00:00:00
abstract:OBJECTIVE:Antiepileptic drugs (AEDs) are important for the treatment of epilepsy, psychiatric diseases, and pain syndromes. Small studies have suggested that AED treatment reduces serum levels of folate and vitamin B12. METHODS:This prospective monocenter study aimed at testing the hypothesis that AED treatment is ass...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22229
更新日期:2011-02-01 00:00:00
abstract::A 64-year-old man developed lethargy and aphasia immediately following cerebral arteriography with iothalamate meglumine. An electroencephalogram showed continuous epileptiform activity. The patient was treated with intravenous phenytoin with complete resolution of clinical symptoms and electroencephalographic epilept...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410250217
更新日期:1989-02-01 00:00:00
abstract::Advances in neuroimaging techniques, particularly high-resolution magnetic resonance imaging (MRI), have proved invaluable in identifying structural brain lesions in patients with epilepsy. The assumption that such focal lesions invariably predict the site of seizure origin may not be correct, however. We report a ser...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199904)45:4<461::aid-ana7>3.0.co
更新日期:1999-04-01 00:00:00
abstract::Ganaxolone (3alpha-hydroxy-3beta-methyl-5alpha-pregnan-20-one) is a novel neurosteroid which has anticonvulsant properties in a number of seizure models as well as the ability to enhance function of the gamma-aminobutyric acid-A (GABA(A)) receptor complex via a neurosteroid binding site. The object of these experiment...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410440417
更新日期:1998-10-01 00:00:00
abstract::WAIS performance was compared in 35 pairs of left- and right-handed subjects who had been individually matched for lateralization, cause of brain damage, age, education, and gender. WAIS results were similar in the two groups as well as in two subgroups of subjects with unilateral brain damage. No differences between ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410020514
更新日期:1977-11-01 00:00:00
abstract::Patients are understandably anxious if seizures occur immediately after temporal lobectomy. Such "neighborhood" seizures are commonly regarded as irrelevant to seizure outcome and discounted in outcome measurement. We conducted an in-depth examination of early postoperative seizures (<28 days) and outcome. The risk of...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20372
更新日期:2005-02-01 00:00:00
abstract::Unexpected sudden death is a common event in otherwise healthy epileptics, though its etiology has remained unclear. Many authors have suggested cardiac arrhythmias as the cause, and limited data in humans and animal studies have supported this. However, autopsy series in humans have shown pulmonary edema, a phenomeno...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410370416
更新日期:1995-04-01 00:00:00
abstract::Regular, evidence-based assignment of patients to etiologic stroke categories is essential to enable valid comparison among studies. We designed an algorithm (SSS-TOAST) that incorporated recent advances in stroke imaging and epidemiology to identify the most probable TOAST category in the presence of evidence for mul...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20617
更新日期:2005-11-01 00:00:00
abstract::Amyloid plaques in Alzheimer's disease contain beta-amyloid, encoded by portions of exons 16 and 17 of the amyloid precursor protein. The specific association of rare amyloid precursor protein mutations with some kindreds with early-onset familial Alzheimer's disease suggests that specific abnormalities in amyloid pre...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410350410
更新日期:1994-04-01 00:00:00
abstract:OBJECTIVE:To explore the prognostic implications of epilepsy duration and age at surgery for seizure outcomes after frontal lobe epilepsy (FLE) surgery. METHODS:We reviewed 158 patients who underwent FLE surgery from 1995 to 2010. The primary outcome was seizure freedom at last follow-up (Engel class IA). Analyses emp...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23862
更新日期:2013-05-01 00:00:00
abstract::A patient developed conjugate horizontal eye deviation to the side opposite a large frontal-perisylvian hemorrhage from a ruptured aneurysm. Autopsy examination confirmed the hemispheric locus of the hemorrhage and failed to disclose any lesion of the brainstem or thalamus to explain the "wrong-way" eye deviation. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090115
更新日期:1981-01-01 00:00:00
abstract::Unverricht-Lundborg disease is a clinically recognizable form of progressive myoclonus epilepsy. Recently, in several families of both Finnish and Mediterranean extraction segregating Unverricht-Lundborg disease, the gene for this disease was linked to the same region of the long arm of chromosome 21. We performed lin...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410340519
更新日期:1993-11-01 00:00:00
abstract::Sporadic amyotrophic lateral sclerosis is a motor neuron disease of unknown origin. Autoimmunity against voltage-gated calcium channels is one mechanism hypothesized to be the cause of the disease. In support of this hypothesis, it was previously reported that amyotrophic lateral sclerosis IgG specifically blocked the...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400505
更新日期:1996-11-01 00:00:00
abstract::We present the clinicopathological features of two siblings from a consanguineous marriage who presented with respiratory hypoventilation and died 10 days and 4 years later, respectively. This disorder showed extensive tau neuropathology, and both had a novel homozygous S352L tau gene mutation. This is the first descr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10747
更新日期:2003-11-01 00:00:00
abstract::A previously healty 43-year-old woman developed bilateral middle cerebral artery occlusion, thrombocytopenia, and multiple thrombi of arteries in the spleen. No underlying cause of her thrombotic disease was detected except for a factor VIII level that was elevated fivefold. An etiological relationship between the cer...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410080416
更新日期:1980-10-01 00:00:00
abstract::Analysis of the pathophysiology of hypokalemic paralysis, as it occurs in barium poisoning, chronic potassium deficiency, and thyrotoxicosis, suggests that these disorders may have a similar mechanism. An increased ratio of muscle sodium permeability to potassium permeability reduces the ionic diffusion potential, whi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410110602
更新日期:1982-06-01 00:00:00
abstract::Recently, variant mRNA transcripts for the astroglial glutamate transporter EAAT2 have been detected in brain tissues of 60% of patients with sporadic amyotrophic lateral sclerosis (SALS). We have tested the hypothesis that the gene for EAAT2 may be defective in some ALS cases. In 16 familial ALS (FALS) pedigrees with...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410430514
更新日期:1998-05-01 00:00:00
abstract::Demonstration of intrathecal IgG production is employed in the diagnosis of various neurological disorders. This pathological IgG fraction in cerebrospinal fluid (CSF) can be visualized directly as oligoclonal bands by electrophoresis or isoelectric focusing or can be calculated as "excess" or "synthesized" IgG accord...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410170105
更新日期:1985-01-01 00:00:00
abstract:OBJECTIVE:Lymphocytic choriomeningitis virus (LCMV) is a human pathogen and an emerging neuroteratogen. When the infection occurs during pregnancy, the virus can target and damage the fetal brain and retina. We examined the spectrum of clinical presentations, neuroimaging findings, and clinical outcomes of children wit...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21161
更新日期:2007-10-01 00:00:00
abstract::We assessed nigrostriatal dopaminergic function in Parkinson's disease (PD) patients undergoing a double-blind, placebo-controlled surgical trial of embryonic dopamine cell implantation. Forty PD patients underwent positron emission tomography (PET) imaging with [18F]fluorodopa (FDOPA) prior to randomization to transp...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/ana.1075
更新日期:2001-08-01 00:00:00
abstract::Muscle afferent activity from the triceps surae was recorded during experimentally induced alterations in amplitude of the Achilles tendon jerk. No changes in the neural afferent response to tendon percussion or in the background level of neural activity occurred when the reflex response was altered by discomfort, dis...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410100610
更新日期:1981-12-01 00:00:00
abstract::Previous studies using two seizure paradigms, electroconvulsive shock and kindling, suggested potential sites of endogenous thyrotropin-releasing hormone (TRH) action in specific epileptogenic areas. We studied TRH gene expression and TRH receptors in rat limbic areas using the kindling model of epilepsy. Immunoassaya...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410330112
更新日期:1993-01-01 00:00:00