Abstract:
:The oculocerebrorenal syndrome (OCRS), Lowe's syndrome, is an X-linked, recessive disease characterized by mental retardation, congenital corneal abnormalities and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia. Ultrastructural studies of skin biopsy specimens in three individuals with the disorder (aged 17, 9, and 8 years) revealed cytoplasmic, membrane-bound, electron-lucent vacuoles and some electron-dense membranous inclusion bodies in fibroblasts and Schwann cells, as well as axonal degeneration and vascular changes. Computed tomographic scans evidenced brain atrophy. Urinary excretion of glycosaminoglycans (GAG) was four to five times greater than in normal controls. The predominant urinary GAG was a low-sulfated chondroitin-4-sulfate; chondroitin-6-sulfate and heparan sulfate excretion levels were normal. A tenfold increase in urinary GAG excretion was found in one patient with oculocerebrorenal syndrome during periods of behavioral agitation. These findings suggest that the clinical stigmata of oculocerebrorenal syndrome may be related to a defect in GAG metabolism.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Wisniewski KE,Kieras FJ,French JH,Houck GE Jr,Ramos PLdoi
10.1002/ana.410160109subject
Has Abstractpub_date
1984-07-01 00:00:00pages
40-9issue
1eissn
0364-5134issn
1531-8249journal_volume
16pub_type
杂志文章abstract::Patients with Hodgkin's disease can develop paraneoplastic cerebellar ataxia because of the generation of autoantibodies against mGluR1 (mGluR1-Abs). Yet, the pathophysiological mechanisms underlying their motor coordination deficits remain to be elucidated. Here, we show that application of IgG purified from the pati...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10451
更新日期:2003-03-01 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:OBJECTIVE:To test the hypothesis that variability in SNCA Rep1, a polymorphic dinucleotide microsatellite in the promoter region of the gene encoding α-synuclein, modifies the association between head injury and Parkinson's disease (PD) risk. METHODS:Participants in the Farming and Movement Evaluation (FAME) and the S...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1002/ana.22499
更新日期:2012-01-01 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:Loss of cerebral autoregulation (CA) plays a key role in secondary neurologic injury. However, the regional distribution of CA impairment after acute cerebral injury remains unclear because, in clinical practice, CA is only assessed within a limited compartment. Here, we performed large-scale regional mapping...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25963
更新日期:2021-02-01 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: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::Classic late infantile neuronal ceroid lipofuscinosis (LINCL) is a neurodegenerative disease in which autofluorescent "curvilinear" storage bodies accumulate in tissues from affected patients. Recently, the LINCL gene (CLN2) has been found to code for a pepstatin-insensitive lysosomal protease whose activity is defici...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-02-01 00:00:00
abstract::The aim of this study was to evaluate the use of functional magnetic resonance imaging as an alternative to intraoperative electrocortical stimulation mapping for the localization of critical language areas in the temporoparietal region. We investigated several requirements that functional magnetic resonance imaging m...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10117
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVE:Though effective anti-human immunodeficiency virus (HIV) therapies are now available, they have variable penetration into the brain. We therefore aimed to assess changes over calendar time in the risk for HIV-associated dementia (HIV-D), and factors associated with HIV-D risk. METHODS:Using Concerted Action ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21225
更新日期:2008-02-01 00:00:00
abstract:OBJECTIVE:Charcot-Marie-Tooth type 4J (CMT4J) is a rare autosomal recessive neuropathy caused by mutations in FIG4 that result in loss of FIG4 protein. This study investigates the natural history and mechanisms of segmental demyelination in CMT4J. METHODS:Over the past 9 years, we have enrolled and studied a cohort of...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25198
更新日期:2018-04-01 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::This report describes, for what may be only the second time, a ruptured miliary aneurysm within a cerebral hemorrhage. The report is unique in that the aneurysm has arisen at the site of a dissection within the wall of an arteriole at a site of fibrinoid necrosis. The case not only is a unique illustration of this pat...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10664
更新日期:2003-09-01 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::We report the clinical, radiological, and neuropathological features of selective brainstem injury in an asphyxiated term infant. Disproportionate injury to thalamus, basal ganglia, and brainstem with relative sparing of cortex and subcortical white matter is observed occasionally after acute total asphyxia. Although ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230115
更新日期:1988-01-01 00:00:00
abstract::The prevalence of clinical signs and neuropathological findings of Alzheimer's disease (AD) is high in Down's syndrome (DS). In the general population, the apolipoprotein E (ApoE) epsilon 4 isoform is an important risk for AD. We studied the allelic frequencies of ApoE in 26 DS cases fulfilling clinical diagnostic cri...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380215
更新日期:1995-08-01 00:00:00
abstract::Patterns of brain dysgenesis that resemble those in the Zellweger syndrome were demonstrated in a boy with an isolated defect of the peroxisomal bifunctional enzyme. There was bilateral centrosylvian pachygyria and polymicrogyria, diffuse hemispheric hypomyelination with heterotopic neurons, Purkinje cell heterotopias...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410390218
更新日期:1996-02-01 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:OBJECTIVE:Narcolepsy is caused by the loss of hypocretin/orexin neurons in the hypothalamus, which is likely the result of an autoimmune process. Recently, concern has been raised over reports of narcolepsy in northern Europe following H1N1 vaccination. METHODS:The study is a retrospective analysis of narcolepsy onset...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22587
更新日期:2011-09-01 00:00:00
abstract::The frequency with which patients presenting with acute or chronic noncompressive cord syndromes subsequently develop multiple sclerosis is uncertain. Magnetic resonance imaging (MRI) was performed on 121 patients with such syndromes to determine the frequency of asymptomatic brain lesions and to assess the sensitivit...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410220607
更新日期:1987-12-01 00:00:00
abstract::Neurotrophic factors have been demonstrated to prevent the development of peripheral neuropathy in animal models, but the therapeutic use of these factors in human disease has been limited by the short serum half-life and dose-limiting side effects of these potent peptides. We used peripheral subcutaneous inoculation ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10061
更新日期:2002-01-01 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::Focal cortical myoclonus is rare. Obvious causes include tumor or atrophy involving the motor strip, but in some cases no cause is apparent. We present 4 patients who started to have focal myoclonus in childhood. All had focal motor seizures as well, and one had recurrent focal motor status epilepticus. All 4 had a mi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230402
更新日期:1988-04-01 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
abstract::Tropical spastic paraparesis (TSP) is a common myeloneuropathy with primary and predominant involvement of the pyramidal tract and minimal sensory loss. The epidemic form of TSP is related to toxic nutritional factors, but the endemic form occurs in clusters in tropical areas, especially in India, Africa, the Seychell...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410210204
更新日期:1987-02-01 00:00:00
abstract::The past decade has seen advances in the management of patients with epilepsy. The development of practical long-term electroencephalographic techniques, with or without simultaneous video recording, has increased the accuracy of diagnosis of seizure types. The technique also provides clinicians and investigators with...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410090103
更新日期:1981-01-01 00:00:00
abstract:OBJECTIVE:To assess the associations of blood biomarkers of carbohydrate, lipid, and apolipoprotein metabolisms with the future risk of amyotrophic lateral sclerosis (ALS). METHODS:In the Apolipoprotein-related MOrtality RISk study, we enrolled 636,132 men and women during 1985-1996 in Stockholm, Sweden, with measurem...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24936
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVE:Pituitary dysfunction is a recognized consequence of traumatic brain injury (TBI) that causes cognitive, psychological, and metabolic impairment. Hormone replacement offers a therapeutic opportunity. Blast TBI (bTBI) from improvised explosive devices is commonly seen in soldiers returning from recent conflict...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23958
更新日期:2013-10-01 00:00:00
abstract::Genomic triplication of the alpha-synuclein gene recently has been associated with familial Parkinson's disease in the Spellman-Muenter kindred. Here, we present an independent family, of Swedish-American descent, with hereditary early-onset parkinsonism with dementia due to alpha-synuclein triplication. Brain tissue ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10846
更新日期:2004-02-01 00:00:00
abstract::A nested polymerase chain reaction was used for the detection of Epstein-Barr virus DNA in 1 patient with encephalitis, and in 1 patient with myelitis. Epstein-Barr virus DNA was detected in cerebrospinal fluid samples obtained at the onset of neurological symptoms in both patients, and serological findings indicated ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410350522
更新日期:1994-05-01 00:00:00