Abstract:
:We describe a family of 9 affected individuals in three generations with nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, and centro-temporal epileptiform discharges, associated with oral and speech dyspraxia and cognitive impairment. The speech disorder was prominent, but differed from that of Landau-Kleffner syndrome and of epilepsy with continuous spike and wave during slow-wave sleep. The electroclinical features of this new syndrome of autosomal dominant rolandic epilepsy resemble those of benign rolandic epilepsy, a common inherited epilepsy of childhood. This family shows clinical anticipation of the seizure disorder, the oral and speech dyspraxia, and cognitive dysfunction, suggesting that the genetic mechanism could be expansion of an unstable triplet repeat. Molecular studies on this syndrome, where the inheritance pattern is clear, could also be relevant to identifying a gene for benign rolandic epilepsy where anticipation does not occur and the mode of inheritance is uncertain.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Scheffer IE,Jones L,Pozzebon M,Howell RA,Saling MM,Berkovic SFdoi
10.1002/ana.410380412subject
Has Abstractpub_date
1995-10-01 00:00:00pages
633-42issue
4eissn
0364-5134issn
1531-8249journal_volume
38pub_type
杂志文章abstract::Brains from male cases with dyslexia show symmetry of the planum temporale and predominantly left-sided cerebrocortical microdysgenesis. We now report on three women with dyslexia. In all brains, the planum temporale was again symmetrical. Also, in two of the brains, multiple foci of cerebrocortical glial scarring wer...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280602
更新日期:1990-12-01 00:00:00
abstract::A young man developed pathological thirst and hyperdipsia, hyperphagia, disordered temperature regulation, a lowered threshold for aggressive behavior, apathy, impaired memory, and seizures following encephalitis. He had marked hyponatremia. Bouts of water drinking produced water intoxication and precipitated status e...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410130217
更新日期:1983-02-01 00:00:00
abstract::The relationship between extrapyramidal sign (EPS) severity and cognitive function was investigated in 184 patients with idiopathic Parkinson's disease (PD) and 301 normal elderly individuals from a community-dwelling cohort in northern Manhattan, New York City. Fifty-six of the patients with PD met criteria for demen...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410330307
更新日期:1993-03-01 00:00:00
abstract::A 26-year-old woman was in spontaneous clinical remission from myasthenia gravis (MG) for six months, yet gave birth to a full-term infant with typical neonatal MG. It is believed that transplacental transfer of anti-acetylcholine (ACh) receptor antibodies is responsible for neonatal MG; therefore, neonatal MG represe...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410060119
更新日期:1979-07-01 00:00:00
abstract:OBJECTIVE:Central nervous system pathology in multiple sclerosis includes both focal inflammatory perivascular injury and injury to superficial structures, including the subpial region of the cortex, which reportedly exhibits a gradient of damage from the surface inward. We assessed how early in the multiple sclerosis ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25429
更新日期:2019-03-01 00:00:00
abstract:OBJECTIVE:Neuronal loss, a key substrate of irreversible disability in multiple sclerosis (MS), is a recognized feature of MS cortical pathology of which the cause remains unknown. Fibrin(ogen) deposition is neurotoxic in animal models of MS, but has not been evaluated in human progressive MS cortex. The aim of this st...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24997
更新日期:2017-08-01 00:00:00
abstract::In vivo phosphorus nuclear magnetic resonance spectroscopy (31P NMR) was used to evaluate the pattern of phosphate compounds in seven newborn babies (mean gestational age, 32 weeks; birth weight, 1,430 gm; age, 37 days) with a history of perinatal asphyxia. Spectra were collected in a 1.9 Tesla superconductive magnet ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160509
更新日期:1984-11-01 00:00:00
abstract:OBJECTIVE: METHODS:We describe biochemically and clinically relevant aspects of mitochondrial ATP synthase, the enzyme that supplies most ATP for the cells energy demand. RESULTS:Analyzing human Rho zero cells we could identify three subcomplexes of ATP synthase: F1 catalytic domain, F1 domain with bound natural IF1 ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20729
更新日期:2006-02-01 00:00:00
abstract::Using three adjustments, we have revised a 1976 prevalence count for multiple sclerosis in the United States. The adjustments were made to data from a US national survey; they used 1990 population projections from the US Bureau of the Census, and results of investigations conducted in Weld and Larimer Countries, Color...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310317
更新日期:1992-03-01 00:00:00
abstract:OBJECTIVE:Alzheimer disease (AD) is the most common form of dementia and is responsible for a huge and growing health care burden in the developed and developing world. The polygenic risk score (PRS) approach has shown 75 to 84% prediction accuracy of identifying individuals with AD risk. METHODS:In this study, we tes...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25530
更新日期:2019-09-01 00:00:00
abstract::alpha 1-Antichymotrypsin (ACT) is a serine protease inhibitor that is markedly elevated in the serum and cerebrospinal fluid of patients with Alzheimer's disease (AD). Patients with Down's syndrome are known to develop neuropathological changes of AD by age 40 years and many become demented. Therefore, in the present ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410320211
更新日期:1992-08-01 00:00:00
abstract:OBJECTIVE:Amyotrophic lateral sclerosis (ALS) is associated with frontotemporal dementia (FTD) in 14% of cases. Five percent report a family history of ALS, and other ALS patients report a family history of other neurodegenerative diseases. The objective of this study was to conduct a family aggregation study of ALS, a...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23969
更新日期:2013-11-01 00:00:00
abstract::We report a large family with a temporal partial epilepsy syndrome inherited in an autosomal dominant mode, with a penetrance of about 80%. This epilepsy syndrome is benign, with age of onset in the second or third decade of life. It is characterized by rare partial seizures, usually secondarily generalized, arising m...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199902)45:2<182::aid-ana8>3.0.co
更新日期:1999-02-01 00:00:00
abstract::Eight patients with recent cerebral hemispheric infarction were studied with positron emission tomography and the oxygen-15 steady-state inhalation and [18F]deoxyglucose techniques to obtain values of regional cerebral blood flow, oxygen consumption, and glucose metabolism. The Sokoloff equation, used to calculate glu...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140605
更新日期:1983-12-01 00:00:00
abstract:OBJECTIVE:A better understanding of the manuscript peer-review process could improve the likelihood that research of the highest quality is funded and published. To this end, we aimed to assess consistency across reviewers' recommendations, agreement between reviewers' recommendations and editors' final decisions, and ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24218
更新日期:2014-08-01 00:00:00
abstract::Myelination is a central nervous system (CNS) process wherein oligodendrocyte-axon interactions lead to the establishment of myelin sheaths that stabilize, protect, and electrically insulate axons. In inflammatory demyelinating diseases such as multiple sclerosis (MS), the degeneration and eventual loss of functional ...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.22415
更新日期:2011-04-01 00:00:00
abstract::Most neurodegenerative disorders are thought to result primarily from the accumulation of misfolded proteins, which interfere with protein homeostasis in neurons. For a subset of diseases, however, noncoding regions of RNAs assume a primary toxic gain-of-function, leading to degeneration in many tissues, including the...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.21948
更新日期:2010-03-01 00:00:00
abstract::Three-dimensional (volume) magnetic resonance angiography is a noninvasive technique that images the intracranial and cervical arterial vasculature without contrast agents. Twenty-four children with strokes had combined parenchymal magnetic resonance imaging and magnetic resonance angiography 1 day to 4 years after ac...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410290603
更新日期:1991-06-01 00:00:00
abstract::Cytological evaluation of cerebrospinal fluid (CSF) is an important means of following response to intracavitary chemotherapy for leptomeningeal malignancy. We studied the feasibility of quantitative cytological evaluation by retrospective analysis of serial CSF specimens from 7 patients receiving phase I intracavitar...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410340118
更新日期:1993-07-01 00:00:00
abstract::Pain and other phantom limb (PL) sensations have been proposed to be generated in the brain and to be reflected in activation of specific neural circuits. To test this hypothesis, hypnosis was used as a cognitive tool to alternate between the sensation of PL movement and pain in 8 amputees. Brain activity was measured...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-12-01 00:00:00
abstract:OBJECTIVES:Amyloid-beta(42) (Abeta(42)) appears central to Alzheimer's disease (AD) pathogenesis and is a major component of amyloid plaques. Mean cerebrospinal fluid (CSF) Abeta(42) is decreased in dementia of the Alzheimer's type. This decrease may reflect plaques acting as an Abeta(42) "sink," hindering transport of...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20730
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVE:Seizure at onset (SaO) has been considered a relative contraindication for intravenous thrombolysis (IVT) in patients with acute ischemic stroke, although this appraisal is not evidence based. Here, we investigated the prognostic significance of SaO in patients treated with IVT for suspected ischemic stroke. ...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.25582
更新日期:2019-11-01 00:00:00
abstract::Eighteen-month-old identical twins with the muscle histological characteristics of congenital fiber type disproportion are reported. The fiber typing system of pH-dependent adenosine triphosphatase was used to analyze the size and percentage of type 1, 2A, and 2B fibers in muscle tissue obtained by needle biopsy. Both...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410020603
更新日期:1977-12-01 00:00:00
abstract::The fate of neurofilament (NF) proteins was examined in sections of nerves from rats that survived for 3 to 90 days following nerve transection, using anti-NF monoclonal antibodies and immunohistochemical techniques. The same methods were also applied to twenty-three human nerve biopsy specimens. Granular debris with ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160312
更新日期:1984-09-01 00:00:00
abstract::Eighty-three patients with epidural spinal cord compression, from metastatic cancer were treated with high-dose adrenocorticosteroids and a new radiation fractionation protocol. Only those patients were included who had complete or almost complete block on myelography and who had not received prior radiation therapy t...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410080404
更新日期:1980-10-01 00:00:00
abstract::The pharmacological responses of vascular adrenergic receptors to intravenously administered epinephrine, phentolamine, and propranolol were assessed by measuring muscle blood flow (MBF) changes in the tibialis anterior muscle using the xenon 133 clearance technique and were compared in 8 normal subjects and 11 patien...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090209
更新日期:1981-02-01 00:00:00
abstract::A case-control study was performed to determine the possible roles of various environmental factors, prior illnesses, drug use, and personal habits in the development of Alzheimer's disease. Such information was collected from 40 patients with onset of dementia prior to age 70 and from 80 community control subjects ma...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150406
更新日期:1984-04-01 00:00:00
abstract:OBJECTIVE:Oral anticoagulation treatment (OAT) resumption is a therapeutic dilemma in intracerebral hemorrhage (ICH) care, particularly for lobar hemorrhages related to amyloid angiopathy. We sought to determine whether OAT resumption after ICH is associated with long-term outcome, accounting for ICH location (ie, loba...
journal_title:Annals of neurology
pub_type: 杂志文章,meta分析,多中心研究
doi:10.1002/ana.25079
更新日期:2017-11-01 00:00:00
abstract:OBJECTIVE:Fast oscillations (FOs) were first explored from scalp electroencephalographic (EEG) data from hypsarrhythmia in West syndrome (infantile spasms) to investigate the meaning of FOs in this epileptic encephalopathy. METHODS:In 17 infants with West syndrome, we conservatively detected fast frequency peaks that ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24299
更新日期:2015-01-01 00:00:00
abstract::It has been known for some time that patients with Parkinson's disease (PD) have difficulty executing simultaneous motor acts, yet the pathophysiology underlying this impairment remains uncertain. We examined the possibility that these dual-task deficits stem from defective sensorimotor mechanisms producing interferen...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310110
更新日期:1992-01-01 00:00:00