Abstract:
:Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood. All patients had abnormally high resonance intensities from inorganic phosphate and an abnormally low calculated cytosolic phosphorylation potential. Two of the 4 patients had abnormally low resonance intensities from phosphocreatine and an abnormally high calculated cytosolic free adenosine diphosphate concentration. These abnormalities are indicative of mitochondrial dysfunction. The combination of a central nervous system disorder and evidence of mitochondrial dysfunction in muscle suggests that alternating hemiplegia of childhood may represent a previously unrecognized phenotype of mitochondrial disease.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Arnold DL,Silver K,Andermann Fdoi
10.1002/ana.410330608subject
Has Abstractpub_date
1993-06-01 00:00:00pages
604-7issue
6eissn
0364-5134issn
1531-8249journal_volume
33pub_type
杂志文章abstract::In patients with Parkinson's disease and in normal subjects, the influence of tremor on repetitive voluntary movement was investigated in the index finger by comparing frequency of isometric force tremor with frequency of voluntary alternating isometric contractions. Tremor frequency, measured over the range from 0 to...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410300208
更新日期:1991-08-01 00:00:00
abstract:OBJECTIVE:This meta-analysis aims to quantitatively synthesize all studies that examine the association between adherence to a Mediterranean diet and risk of stroke, depression, cognitive impairment, and Parkinson disease. METHODS:Potentially eligible publications were those providing effect estimates of relative risk...
journal_title:Annals of neurology
pub_type: 杂志文章,meta分析
doi:10.1002/ana.23944
更新日期:2013-10-01 00:00:00
abstract::Dopa-decarboxylase, acetylcholinesterase, sodium plus potassium stimulated adenosine triphosphatase (Na+ + K+-ATPase), and membrane-bound protein kinase were compared in the erythrocytes of patients with Huntington's disease and normal controls. All these enzymes also exist in the basal ganglia. The Na+ +K+-ATPase lev...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410040111
更新日期:1978-07-01 00:00:00
abstract::Antibodies to Ma1 and Ma2 proteins identify a paraneoplastic disorder that affects the limbic system, brain stem, and cerebellum. Preliminary studies suggested the existence of other Ma proteins and different patterns of immune response associated with distinct neurologic symptoms and cancers. In this study, our aim w...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2001-09-01 00:00:00
abstract::Dichloroacetate (DCA) stimulates pyruvate dehydrogenase complex (PDHC) activity and lowers cerebral lactate concentrations. In the R6/2 and N171-82Q transgenic mouse models of Huntington's disease (HD), DCA significantly increased survival, improved motor function, delayed loss of body weight, attenuated the developme...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1085
更新日期:2001-07-01 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::Sera from 6 of 12 patients with paraneoplastic cerebellar degeneration (PCD) contained anti-Purkinje cell antibodies, as determined by indirect immunofluorescence on frozen sections of normal human cerebellum. Samples of cerebrospinal fluid from 2 of the patients with serum antibodies were tested, and both specimens c...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410180513
更新日期:1985-11-01 00:00:00
abstract::Understanding of the organization and function of a newly identified neuronal messenger molecule, nitric oxide, has progressed rapidly. Nitric oxide synthase has been purified and molecularly cloned from brain. Its localization is exclusively neuronal and endothelial. The catalytic activity of nitric oxide synthase ac...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410320302
更新日期:1992-09-01 00:00:00
abstract::Female patients experience substantial neuroprotection after experimental stroke compared with male patients, a finding attributed to the protective effects of gonadal hormones. This study examined the response of male- and female-derived organotypic hippocampal slices to oxidative and excitotoxic injury. Both oxygen ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20538
更新日期:2005-08-01 00:00:00
abstract::Plasma valproate concentrations were monitored prospectively in 54 previously untreated adult patients with epilepsy. Dose and plasma concentration were highly correlated. Adverse effects were common in association with plasma levels above 100 micrograms/ml. In patients suffering tonic-clonic seizures without focal sy...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410140107
更新日期:1983-07-01 00:00:00
abstract::We describe the clinical and oculographic findings in 4 families with episodic ataxia and interictal nystagmus (EA-2) linked to chromosome 19p. Episodes varied from pure ataxia to combinations of symptoms suggesting involvement of the cerebellum, brainstem, and cortex. Some affected individuals exhibited a progressive...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410410105
更新日期:1997-01-01 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 pontine tegmentum contains the neurons responsible for generation of saccadic eye movements and certain phases of sleep. We studied two genetically unrelated patients with spinocerebellar degeneration and slow saccadic eye movements. Multiple all-night sleep studies in both patients disclosed absence of REM and st...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410070312
更新日期:1980-03-01 00:00:00
abstract::Alterations of nodal and paranodal axolemma of the rat sciatic nerve were investigated in antigalactocerebroside serum-induced demyelination. A ferric ion-ferrocyanide (FeFCN) stain that appears to stain the regions with a high sodium channel density in nerve fibers was applied. When acute conduction block was initiat...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150611
更新日期:1984-06-01 00:00:00
abstract::In an attempt to define prognostic indicators of intelligence and seizures in the hemiparetic cerebral palsy population, birth histories, electroencephalograms, and computerized tomographic (CT) scans were reviewed in 52 children with hemiparetic cerebral palsy. Cases were excluded when the hemiparesis might have been...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090407
更新日期:1981-04-01 00:00:00
abstract::Latency measurements between three potentials (waves I, III, and IV/V) of the human brainstem auditory response can allow early detection of certain posterior fossa lesions. The diagnostic use of these interwave latencies requires knowledge of what factors may prolong them in the absence of disease. Hypothermia appear...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030416
更新日期:1978-04-01 00:00:00
abstract::Most clinically demented elderly patients are found at autopsy to have Alzheimer's disease, multi-infarct dementia, Parkinson's disease, Pick's disease, or Creutzfeldt-Jakob disease. We studied 5 patients clinically characterized by late onset dementia whose brains showed no pathological evidence of Alzheimer's diseas...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410290409
更新日期:1991-04-01 00:00:00
abstract::Eighteen consecutive patients undergoing vestibular nerve surgery underwent pre- and postoperative examination of ocular motility. Five patients developed a skew deviation following surgery, with the lower eye on the operated side and an incomitant pattern of deviation in all cases. Three patients experienced diplopia...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410410115
更新日期:1997-01-01 00:00:00
abstract::We measured brain acetylcholinesterase activity in 30 patients with Alzheimer's disease (AD) and 14 age-matched controls by positron emission tomography (PET) and using a carbon 11-labeled acetylcholine analogue. Seven AD patients had repeat PET scans. The k3 values were calculated as an index of acetylcholinesterase ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-08-01 00:00:00
abstract::For unknown reasons, placebos reduce seizures in clinical trials in many patients. It is also unclear why some drugs showing statistical superiority to placebo in one trial may fail to do so in another. Using Seizuretracker.com, a patient-centered database of 684,825 seizures, we simulated "placebo" and "drug" trials....
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24470
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVE:GM2 gangliosidoses are lysosomal diseases due to biallelic mutations in the HEXA (Tay-Sachs disease [TS]) or HEXB (Sandhoff disease [SD]) genes, with subsequent low hexosaminidase(s) activity. Most patients have childhood onset, but some experience the first symptoms during adolescence/adulthood. This study a...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25689
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVE:Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly as a myopathy usually beginning in childhood and progressing relentlessly. We investigated the safet...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.25506
更新日期:2019-08-01 00:00:00
abstract:OBJECTIVE:The full anticonvulsant effect of the ketogenic diet (KD) can require weeks to develop in rats, suggesting that altered gene expression is involved. The KD typically is used in pediatric epilepsies, but is effective also in adolescents and adults. Our goal was to use microarray and complementary technologies ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20899
更新日期:2006-08-01 00:00:00
abstract::A 37-year-old homosexual man with the acquired immune deficiency syndrome (AIDS) developed progressive, ultimately fatal, neurological deficits 12 weeks after a course of cutaneous zoster. Premortem radiological procedures and cerebrospinal fluid analyses were nondiagnostic. At postmortem examination, several opportun...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190212
更新日期:1986-02-01 00:00:00
abstract::Recently, the excitatory amino acid neurotransmitter glutamate was implicated in the pathogenesis of a variety of chronic degenerative neurological diseases in humans and animals. This report describes abnormalities in excitatory amino acids in the central nervous system of 18 patients with amyotrophic lateral scleros...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280106
更新日期:1990-07-01 00:00:00
abstract:OBJECTIVE:There are no validated methods for predicting the timing of seizures. Using machine learning, we sought to forecast 24-hour risk of self-reported seizure from e-diaries. METHODS:Data from 5,419 patients on SeizureTracker.com (including seizure count, type, and duration) were split into training (3,806 patien...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25812
更新日期:2020-09-01 00:00:00
abstract::Urinary urgency and frequency are common in α-synucleinopathies such as Parkinson disease, Lewy body dementia, and multiple system atrophy. These symptoms cannot be managed with dopamine therapy, and their underlying pathophysiology is unclear. We show that in individuals with Parkinson disease, Lewy body dementia, or...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24430
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVE:To develop and validate a questionnaire for assessing cutaneous allodynia (CA), and to estimate the prevalence and severity of CA in the migraine population. METHODS:Migraineurs (n = 11,388) completed the Allodynia Symptom Checklist, assessing the frequency of allodynia symptoms during headache. Response opt...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21211
更新日期:2008-02-01 00:00:00
abstract:OBJECTIVE:The study was undertaken to determine whether normobaric hypoxia causes elevated brain volume and intracranial pressure in individuals with symptoms consistent with acute mountain sickness (AMS). METHODS:Thirteen males age = (26 (sd 6)) years were exposed to normobaric hypoxia (12% O2 ) and normoxia (21% O2 ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24171
更新日期:2014-06-01 00:00:00
abstract:OBJECTIVE:Nonketotic hyperglycinemia is a neurometabolic disorder characterized by intellectual disability, seizures, and spasticity. Patients with attenuated nonketotic hyperglycinemia make variable developmental progress. Predictive factors have not been systematically assessed. METHODS:We reviewed 124 patients stra...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24485
更新日期:2015-10-01 00:00:00