Abstract:
:We report a neurological disease among Cree Indian children in a northern Quebec village. The disease manifests as severe mental retardation, cerebral atrophy with white matter changes and calcifications, and systemic immunological abnormalities. Eleven cases are known in five families. The familial incidence of cases and the high degree of parental consanguinity suggest a genetic contribution. We propose that this entity may be caused by an unusual viral infection in a genetically vulnerable host.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Black DN,Watters GV,Andermann E,Dumont C,Kabay ME,Kaplan P,Meagher-Villemure K,Michaud J,O'Gorman G,Reece Edoi
10.1002/ana.410240402subject
Has Abstract,Author List Incompletepub_date
1988-10-01 00:00:00pages
483-9issue
4eissn
0364-5134issn
1531-8249journal_volume
24pub_type
杂志文章abstract::The etiology of sudden death in patients with epilepsy remains unclear. Previous studies in a well-established sheep model of status epilepticus showed that more than one-third of the unsedated animals died within 5 minutes of seizure onset due to hypoventilation. The relative contributions of airway obstruction and c...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410420409
更新日期:1997-10-01 00:00:00
abstract::A persistent vegetative state (severe dementia) developed in a 30-year-old man following hypoglycemic coma. Despite the poor clinical outcome, sensory evoked response recovered between 6 and 34 months after the insult. The cerebral blood flow level at rest after 34 months was slightly above the normal range. This find...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140414
更新日期:1983-10-01 00:00:00
abstract::Alexander's law refers to the phenomenon in which the spontaneous nystagmus of a patient with a vestibular lesion is more intense when the patient looks in the quick-phase than in the slow-phase direction. Alexander's law was investigated in normal subjects as well as patients with vestibular lesions. During sinusoida...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160614
更新日期:1984-12-01 00:00:00
abstract::In patients with the frontal variant of frontotemporal lobar degeneration (fv-FTLD), behavioral abnormalities may vary from apathy with motor slowness (apathetic form) to disinhibition with agitation (disinhibited form). These clinical presentations may be related to specific regional cerebral dysfunction and to defic...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20365
更新日期:2005-02-01 00:00:00
abstract::To elucidate the role of D-serine in human central nervous system, we analyzed D-serine, L-serine, and glycine concentrations in cerebrospinal fluid of healthy children and children with a defective L-serine biosynthesis (3-phosphoglycerate dehydrogenase deficiency). Healthy children showed high D-serine concentration...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20977
更新日期:2006-10-01 00:00:00
abstract::Two members of a family with a neuropathy resembling Charcot-Marie-Tooth disease were unable to relax their muscles after voluntary contraction. Muscle spasm often outlasted voluntary contraction by 30 seconds or more before subsiding into myokymia and fasciculations. The posture of the hand during muscle spasm resemb...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410050605
更新日期:1979-06-01 00:00:00
abstract:OBJECTIVE:To assess the ability for visual search and recognition of roadside targets and safety errors during a landmark and traffic sign identification task in drivers with Parkinson's disease (PD). METHODS:Seventy-nine drivers with PD and 151 neurologically normal older adults underwent a battery of visual, cogniti...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20958
更新日期:2006-10-01 00:00:00
abstract::Nowadays, the "flipped classroom" approach is taking the center stage within medical education. However, very few reports on the implementation of the flipped classroom in neurology have been published to date, and this educational model still represents a challenge for students and educators alike. In this article, n...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25609
更新日期:2020-01-01 00:00:00
abstract::Interpretation of biochemical measurements in the human brain after death is complicated by a variety of premortem, perimortem, and postmortem factors. The activity of glutamic acid decarboxylase (GAD) in particular has been found to vary considerably among human brains. In contrast to neurotransmitter-associated enzy...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410100410
更新日期:1981-10-01 00:00:00
abstract::Oxidative damage to DNA may play a role in both normal aging and in neurodegenerative diseases. We examined whether Alzheimer's disease (AD) is associated with increased oxidative damage to nDNA and mtDNA in postmortem brain tissue. We measured the oxidized nucleoside, 8-hydroxy-2'-deoxyguanosine (OH8dG), in DNA isola...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410360510
更新日期:1994-11-01 00:00:00
abstract::Measurement of conduction velocity along the H reflex arc was used to study sensorimotor peripheral nerve function in diabetic patients during short- and long-term improvement of hyperglycemia. In ten type I diabetics a slight (p less than 0.05) conduction increase occurred after 6 hours of normal glycemia induced by ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160204
更新日期:1984-08-01 00:00:00
abstract::We previously reported that the monoclonal antibody Alz-50 recognizes a protein (A68) with an apparent molecular weight of 68,000 daltons in the brains of patients who died with Alzheimer's disease, but not in brain tissue from individuals free of neurological disease. We now report that substantial quantities of this...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410220412
更新日期:1987-10-01 00:00:00
abstract::Magnetic resonance imaging is a highly sensitive method for the detection of the lesions of multiple sclerosis and renders possible the study and the evolution of early lesions. Previous reports on magnetic resonance imaging following gadolinium-diethylenetriamine pentaacetic acid (Gd-DTPA) injection demonstrated that...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410340507
更新日期:1993-11-01 00:00:00
abstract::A patient with generalized convulsions noted that seizures were reliably precipitated by mental arithmetic. The interictal electroencephalogram revealed only a mild, diffuse, nonspecific disturbance, but bursts of generalized epileptiform activity with no obvious clinical expression accompanied efforts at mental arith...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410110609
更新日期:1982-06-01 00:00:00
abstract::A novel mitochondrial DNA transfer RNA mutation at position 5549 was identified in a patient with dementia, chorea, cerebellar ataxia, deafness, and peripheral neuropathy in the absence of clinical myopathy. Muscle biopsy specimens showed ragged red and cytochrome oxidase-negative fibers, and reduced complex I activit...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410370317
更新日期:1995-03-01 00:00:00
abstract::One of the most striking manifestations of Down's syndrome is profound mental retardation. Furthermore, after 35 years of age, many patients with Down's syndrome develop clinical and pathological features of Alzheimer's disease. Since brains of patients with Alzheimer's disease show significant loss of neurons in the ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410180306
更新日期:1985-09-01 00:00:00
abstract:OBJECTIVE:To create a data-driven computational model that identifies brain regions most frequently influenced by successful deep brain stimulation (DBS) of the globus pallidus (GP) for advanced, medication-resistant, generalized dystonia. METHODS:We studied a retrospective cohort of 21 DYT1 primary dystonia patients ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24187
更新日期:2014-07-01 00:00:00
abstract::Ten laminin alpha2-deficient patients were identified by both immunofluorescence and immunoblotting (30% of congenital muscular dystrophy patients tested). Three of the laminin alpha2-deficient patients were carrying a diagnosis of infantile polymyositis prior to immunostaining studies. The clinical features in the 10...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400515
更新日期:1996-11-01 00:00:00
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::We recently reported that systemic administration of a proteasome inhibitor induced a progressive levodopa-responsive, bradykinetic syndrome in rats with imaging, pathological, and biochemical features that strikingly resemble what is found in PD. This model has the potential to be a useful tool for studying the mecha...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20936
更新日期:2006-08-01 00:00:00
abstract::Solitary neoplastic proliferation of plasma cells (plasmacytoma) rarely occurs in the central nervous system. The longest follow-Up in nine previously reported patients was 5 years. We have followed two patients with solitary intracranial plasmacytoma for 8 and 13 years, respectively. At the time of biopsy diagnosis, ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410110514
更新日期:1982-05-01 00:00:00
abstract::Positron emission tomography was used to study the effect of supratentorial infarction on cerebellar metabolic rate for oxygen and cerebellar blood flow. In a control group of patients, the mean cerebellar metabolic rate for oxygen was 2.97 +/- 0.11 (standard error of the mean [SEM] ) ml-1 . min-1 . hg-1 and mean cere...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140203
更新日期:1983-08-01 00:00:00
abstract::Tetrabenazine is considered to act in a manner similar to reserpine to reduce the involuntary movements of tardive dyskinesia or Huntington's disease and to improve psychoses. We determined that tetrabenazine also has properties of a dopamine receptor antagonist by testing the ability of tetrabenazine to block the inh...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410120308
更新日期:1982-09-01 00:00:00
abstract::A 42-year-old homosexual man without evidence of immune deficiency developed cerebral granulomatous angiitis in association with the isolation of human T-lymphotropic virus type III (HTLV-III) from brain tissue and cerebrospinal fluid. This syndrome may be an additional neurological sequela of HTLV-III infection. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200316
更新日期:1986-09-01 00:00:00
abstract:OBJECTIVE:To develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2). METHODS:In a discovery cohort, we used microarrays to perform global analysis of alternative splicing in DM1 and DM2. The newly identified splicing changes were combined with p...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23992
更新日期:2013-12-01 00:00:00
abstract::Mutations in AbetaPP cause deposition of Abeta amyloid fibrils in brain parenchyma and cerebral vessels, resulting in Alzheimer's disease (AD) and/or cerebral amyloid angiopathy (CAA). We report a novel mutation (L705V) within the Abeta sequence of AbetaPP in a family with autosomal dominant, recurrent intracerebral h...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20571
更新日期:2005-10-01 00:00:00
abstract:OBJECTIVE:Intracranial electroencephalography (ICEEG) with chronically implanted electrodes is a costly invasive diagnostic procedure that remains necessary for a large proportion of patients who undergo evaluation for epilepsy surgery. This study was designed to evaluate whether magnetic source imaging (MSI), a noninv...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21660
更新日期:2009-06-01 00:00:00
abstract::Twenty-five patients with recently diagnosed leptomeningeal metastases underwent a prospective clinical and electro-physiological study to assess the mode and extent of peripheral nerve and spinal root involvement. Motor conduction velocities and F wave latencies in the legs were found frequently to be disturbed compa...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410170611
更新日期:1985-06-01 00:00:00
abstract::During passive extension of the elbow, the triceps muscle normally shows a burst of electromyographic activity. This shortening reaction (SR) is known to be exaggerated in extrapyramidal disease states, but the effects of cerebellar disease are unknown. The SR was measured in both arms of a patient with hemiataxia, th...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410110307
更新日期:1982-03-01 00:00:00
abstract::We compared the accuracy of saccades made to seen or remembered visual targets in 3 patients with saccadic dysmetria due to cerebellar lesions. Saccadic dysmetria was worse for saccades to remembered targets and for saccades to flashed targets visible for only 150 msec (i.e., invisible at the time of saccade). Further...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410350117
更新日期:1994-01-01 00:00:00