Abstract:
:Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephaly and evolving to extensive brain destruction. Light microscopy of the lesions showed extensive small-vessel proliferation and gliosis. A distinct deficiency of complex I of mitochondrial respiratory chain was established in cultured fibroblasts, skeletal muscle, and heart muscle. Specific lack of complex I protein was demonstrated by two-dimensional gel electrophoresis.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Dionisi-Vici C,Ruitenbeek W,Fariello G,Bentlage H,Wanders RJ,Schägger H,Bosman C,Piantadosi C,Sabetta G,Bertini Edoi
10.1002/ana.410420419subject
Has Abstractpub_date
1997-10-01 00:00:00pages
661-5issue
4eissn
0364-5134issn
1531-8249journal_volume
42pub_type
杂志文章abstract:OBJECTIVE:Migraine aura is sparsely studied due to the highly challenging task of capturing patients during aura. Cortical spreading depression (CSD) is likely the underlying phenomenon of aura. The possible correlation between the multifaceted phenomenology of aura symptoms and the effects of CSD on the brain has not ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25096
更新日期:2017-12-01 00:00:00
abstract::Two patients with biopsy-proved progressive multifocal leukoencephalopathy (PML) were treated with near-maximal doses of adenine arabinoside (Ara-A), 18.6 and 20 mg per kilogram of body weight per day for 14 days. In both patients, clinical progression of the disease was correlated with an increase in the size of low-...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410010509
更新日期:1977-05-01 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::The effects on cerebral hemodynamics of venisection and a 4% albumin-saline infusion were studied in six patients with high hematocrit (mean, 51.5%). Cerebral blood flow (CBF) was measured using the xenon 133 intracarotid injection method. Blood gases were measured in arterial and jugular venous blood. Rapid two-stage...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090507
更新日期:1981-05-01 00:00:00
abstract::Extramedullary hematopoiesis (EMH) in the spinal epidural space is a rare but treatable cause of progressive paraparesis in patients with a variety of hematological and systemic disorders. We report a case of extensive thoracic epidural EMH causing progressive spastic paraparesis in a patient with agnogenic myeloid me...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410050515
更新日期:1979-05-01 00:00:00
abstract::This paper attempts to place into perspective the present state of clinical investigation with PET in neurology. To this end we briefly review the work of the neurology group of the MRC Cyclotron Unit at Hammersmith Hospital, by reference to studies performed in normal subjects and in patients with cerebrovascular dis...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150722
更新日期:1984-01-01 00:00:00
abstract::The first electrophysiological study of the human lateral geniculate nucleus (LGN), optic radiation, striate, and extrastriate visual areas is presented in the context of presurgical evaluation of three epileptic patients (Patients 1, 2, and 3). Visual-evoked potentials to pattern reversal and face presentation were r...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10403
更新日期:2003-01-01 00:00:00
abstract::The effect of focal ischemia on tissue pH was studied at various times up to 6 hours after permanent middle cerebral artery occlusion in rats. Tissue pH was imaged by using umbelliferone fluorescence and correlated with cerebral blood flow, ATP content, and recordings of the steady potential. Circumscribed foci of all...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-04-01 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::We studied the in vitro electrical activity of rat neostriatal neurons following chronic neuroleptic treatment. In haloperidol-treated rats, unlike naive animals, activation of neostriatal D2 dopamine receptors induced a potent presynaptic inhibition of glutamate-mediated excitatory synaptic potentials. Haloperidol tr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310404
更新日期:1992-04-01 00:00:00
abstract::Four guanidino compounds that have been found to be markedly increased in cerebrospinal fluid and brain tissue of uremic patients, namely, guanidine, methylguanidine, creatinine, and guanidinosuccinic acid, were applied to mouse spinal cord neurons in primary dissociated cell culture to evaluate their effects on posts...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280505
更新日期:1990-11-01 00:00:00
abstract::Striatal particulate preparations, both from rats with lesion-induced striatal dopamine (DA) loss and from some striatal dopamine (DA) loss and from some patients with Parkinson's disease, exhibit increased 3H-neuroleptic binding, which is interpreted to be the mechanism of denervation-induced behavioral supersensitiv...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190412
更新日期:1986-04-01 00:00:00
abstract::The factors contributing to selective motoneuron loss in amyotrophic lateral sclerosis (ALS) remain undefined. To investigate whether calcium-binding proteins contribute to selective motoneuron vulnerability in ALS, we compared calbindin-D28K and parvalbumin immunoreactivity in motoneuron populations in human ALS, and...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410360608
更新日期:1994-12-01 00:00:00
abstract::We sought to determine whether the putative pontine micturition center in the human dorsal pons contains corticotrophin-releasing factor (CRF) neurons, and whether these neurons are depleted in patients with multiple system atrophy and bladder dysfunction. Brains were obtained at autopsy from 4 control subjects and 4 ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1258
更新日期:2001-11-01 00:00:00
abstract::Twenty-six patients with late-stage Parkinson disease were given 0.4 to 15 mg of pergolide mesylate daily in addition to, or as replacement for, levodopa or bromocriptine therapy. Despite treatment with individually determined optimum doses of levodopa, bromocriptine, and anticholinergics, they had shown response fail...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410120305
更新日期:1982-09-01 00:00:00
abstract::Multiple sclerosis (MS) is the most common idiopathic inflammatory disease of the central nervous system. The distinction between MS and other benign or fulminant inflammatory demyelinating disorders is based on quantitative, rather than qualitative, differences in chronicity and severity. Primary progressive MS may d...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410360704
更新日期:1994-01-01 00:00:00
abstract::In a patient with acquired immunodeficiency disease syndrome (AIDS) and muscle weakness, a muscle biopsy specimen disclosed degeneration of muscle fibers, regeneration, and focal endomysial mononuclear inflammation. A conspicuous feature was the presence of perivascular macrophages within the endomysium that showed po...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280418
更新日期:1990-10-01 00:00:00
abstract:OBJECTIVE:A workgroup commissioned by the Alzheimer's Association (AA) and the National Institute on Aging (NIA) recently published research criteria for preclinical Alzheimer disease (AD). We performed a preliminary assessment of these guidelines. METHODS:We employed Pittsburgh compound B positron emission tomography...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22628
更新日期:2012-06-01 00:00:00
abstract:OBJECTIVE:MRI-negative (MRI-) pharmacoresistant focal epilepsy (PFE) patients are most challenging for epilepsy surgical management. This study utilizes a voxel-based MRI postprocessing technique, implemented using a morphometric analysis program (MAP), aiming to facilitate detection of subtle focal cortical dysplasia ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24169
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:Compared to older Caucasians, older African Americans have higher risks of developing Alzheimer disease (AD) and lower cerebrospinal fluid (CSF) tau biomarker levels. It is not known whether tau-related differences begin earlier in life or whether race modifies other AD-related biomarkers such as inflammatory...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25543
更新日期:2019-09-01 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
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::Mitochondria are cellular organelles crucial for energy supply and calcium homeostasis in neuronal cells, and their dysfunction causes seizure activity in some rare human epilepsies. To directly test whether mitochondrial respiratory chain enzymes are abnormal in the most common form of chronic epilepsy, temporal lobe...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-11-01 00:00:00
abstract::Instrumental neutron activation analysis procedures were used to determine the aluminum content of various brain regions in histologically verified Alzheimer disease (AD) and in controls. The grand mean aluminum level for 74 AD specimens was 0.372 +/- 0.058 microgram/gm and for 137 adult controls, 0.467 +/- 0.033 micr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410100604
更新日期:1981-12-01 00:00:00
abstract::The unloading reflex was measured in the intrinsic muscles of the hand. By removing various fractions of the load on the muscles, we determined the size of the electromyographic response as a function of the change in the external force. This technique was applied to both hands of a patient with a pontine lesion who h...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410130309
更新日期:1983-03-01 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::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::Basis pontis lacunes cause contralateral but rarely ipsilateral ataxia. We explored this phenomenon with isotope tract tracing in the rhesus monkey. Labeled pontocerebellar fibers cross midline and disperse widely in the opposite hemipons before coalescing in the brachium pontis. This anatomical arrangement suggests t...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20060
更新日期:2004-04-01 00:00:00
abstract::We describe a kindred with 7 confirmed and 2 probable cases of subacute dementia accompanied by myoclonus. The inheritance pattern is consistent with autosomal dominance and shows anticipation. The pathological changes involve marked gliosis with neuronal loss of the dorsomedial and midline thalamic nuclei, with lesse...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200209
更新日期:1986-08-01 00:00:00
abstract::We describe the cases of eight patients with chronic idiopathic anhidrosis. These patients were heat intolerant and became hot, flushed, dizzy, dyspneic, and weak but did not sweat when the ambient temperature was high or when they exercised. Four patients had preganglionic sudomotor lesions and in the remaining 4 the...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410180312
更新日期:1985-09-01 00:00:00