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 activity on polarography. There was diffuse neuronal loss and gliosis throughout the brain on postmortem examination. The heteroplasmic mutation had a widespread distribution in autopsy tissues.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Nelson I,Hanna MG,Alsanjari N,Scaravilli F,Morgan-Hughes JA,Harding AEdoi
10.1002/ana.410370317subject
Has Abstractpub_date
1995-03-01 00:00:00pages
400-3issue
3eissn
0364-5134issn
1531-8249journal_volume
37pub_type
杂志文章abstract:OBJECTIVE:Chronic, low-dose exposure to pesticides is suspected to increase the risk for Parkinson's disease (PD), but data are inconclusive. METHODS:We prospectively examined whether individuals exposed to pesticides have higher risk for PD than those not exposed. The study population comprised participants in the Ca...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20904
更新日期:2006-08-01 00:00:00
abstract::Striopallidodentate calcinosis (Fahr's disease) is characterized clinically by seizures, rigidity, and dementia and pathologically by mineral deposition in the basal ganglia, dentate nucleus, and cerebral cortex. Disorders of iron and calcium-phosphate metabolism are thought to play a role in its pathogenesis. We pres...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410260412
更新日期:1989-10-01 00:00:00
abstract::Protease-resistant prion protein, total prion protein, and glial fibrillary acidic protein were measured in various brain regions from 9 subjects with fatal familial insomnia. Six were homozygotes methionine/methionine at codon 129 (mean duration, 10.7 +/- 4 months) and 3 were heterozygotes methionine/valine (mean dur...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380107
更新日期:1995-07-01 00:00:00
abstract::Auditory evoked magnetic fields to noise/square-wave sequences, presented once every 2.2 seconds, were recorded in 8 patients who had ischemic lesions in the auditory cortex or in its vicinity. In 2 patients with large temporoparietal lesions, the magnetic 100-msec deflection (N100m) was absent over the damaged side. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410300114
更新日期:1991-07-01 00:00:00
abstract::Neuronal injury resulting from glutamate receptor-mediated excitotoxicity has been implicated in a wide spectrum of neurological disease states, including ischemia, central nervous system trauma, and some types of neurodegenerative diseases. Excitotoxicity may interact with other pathophysiological processes to enhanc...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410350707
更新日期:1994-01-01 00:00:00
abstract::Molecular genetics has had a powerful impact on clinical neurology. Definitions of disease are changing from clinical criteria to DNA analysis, resolving questions about the nature of clinically similar but not identical diseases. Genetic counseling is more reliable. Concepts of mendelian inheritance are being tested ...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410320213
更新日期:1992-08-01 00:00:00
abstract:OBJECTIVE:Visual Evoked Potentials (VEPs) following optic neuritis (ON) remain chronically prolonged, although standard visual tests indicate full recovery. We hypothesized that dynamic visual processes, such as motion perception, may be more vulnerable to slowed conduction in the optic nerve, and consequently be bette...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22692
更新日期:2012-04-01 00:00:00
abstract::We report the first molecular defect in an NADH-dehydrogenase gene presenting as isolated myopathy. The proband had lifelong exercise intolerance but no weakness. A muscle biopsy showed cytochrome c oxidase (COX)-positive ragged-red fibers (RRFs), and analysis of the mitochondrial enzymes revealed complex I deficiency...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199906)45:6<820::aid-ana22>3.0.c
更新日期:1999-06-01 00:00:00
abstract::We present a patient with hemidystonia and an abnormality of the contralateral basal ganglion seen only with positron emission tomography. A 50-year-old sinistral man suffered minor trauma to the right side of his head and neck. Within 20 minutes he developed paroxysmal intermittent dystonic posturing of his right fac...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150303
更新日期:1984-03-01 00:00:00
abstract::We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation has been well described and clearly shown to cause recessive ALS. In this family, affected individuals are heterozygous for the D90A mutation and also carry a sin...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(20010201)49:2<267::aid-ana51>3.0
更新日期:2001-02-01 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::The in vivo demyelinating capacity of sera from 27 patients with Guillain-Barré syndrome (GBS) and 47 other individuals was studied by intraneural injection into rat sciatic nerves. The morphological features of the nerves in cross section taken just proximal to the site of needle insertion was assessed 48 hours after...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410110112
更新日期:1982-01-01 00:00:00
abstract::Recent reports showed many patients with chronic fatigue syndrome (CFS) harbor a retrovirus, xenotropic murine leukemia-related virus (XMRV), in blood; other studies could not replicate this finding. A useful next step would be to examine cerebrospinal fluid, because in some patients CFS is thought to be a brain disor...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22389
更新日期:2011-04-01 00:00:00
abstract::Recently, transcranial Doppler sonography has been introduced into clinical practice for noninvasive investigation of the large intracranial arteries. To determine its accuracy for detection of stenosing or occluding lesions, 133 consecutive patients were studied by both transcranial Doppler sonography and selective c...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280507
更新日期:1990-11-01 00:00:00
abstract::N-acetylaspartate (NAA) contributes to the most prominent signal in proton magnetic resonance spectroscopy (1H-MRS) of the adult human brain. We report the absence of NAA in the brain of a 3-year-old child with neurodevelopmental retardation and moderately delayed myelination. Since normal concentration of NAA in body...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2001-04-01 00:00:00
abstract::If patients with left-sided hemispatial neglect bisect lines incorrectly because hemianopia or sensory hemiinattention prevents them from seeing how far the line extends to the left, a strategy that ensures their seeing the left side of the line in their normal field should improve performance. If patients have hemisp...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410050210
更新日期:1979-02-01 00:00:00
abstract:OBJECTIVE:T2-weighted magnetic resonance imaging is a sensitive tool for monitoring progression of multiple sclerosis, but it does not provide information on the severity of the underlying tissue damage. Measurement of T1 hypointensities and magnetization transfer ratio (MTR) can potentially distinguish lesions with mo...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21113
更新日期:2007-09-01 00:00:00
abstract:OBJECTIVE:Newer magnetic resonance imaging (MRI) techniques have shown promise in capturing early Parkinson disease (PD)-related changes in the substantia nigra pars compacta (SNc), the key pathological loci. Their translational value, however, is hindered by technical complexity and inconsistent results. METHODS:A no...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.25376
更新日期:2019-01-01 00:00:00
abstract:OBJECTIVE:We examined the sarcolemma of skeletal muscle from patients with facioscapulohumeral muscular dystrophy (FSHD1A) to learn if, as in other murine and human muscular dystrophies, its organization and relationship to nearby contractile structures are altered. METHODS:Unfixed biopsies of control and FSHD deltoid...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20750
更新日期:2006-02-01 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:OBJECTIVE:Small-fiber sensory and autonomic symptoms are early presentations of familial amyloid polyneuropathy (FAP) with transthyretin (TTR) mutations. This study aimed to explore the potential of skin nerve pathologies as early and disease-progression biomarkers and their relationship with skin amyloid deposits. ME...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25433
更新日期:2019-04-01 00:00:00
abstract::An increasing spectrum of diseases has been shown to be associated with the human T-cell lymphotropic virus type I (HTLV-I), most notably a chronic, progressive myelopathy termed HTLV-I--associated myelopathy/tropical spastic paraparesis and adult T-cell leukemia. HTLV-II is a close relative of HTLV-I and is structura...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410330411
更新日期:1993-04-01 00:00:00
abstract::A predominantly sensory peripheral neuropathy is common with human immunodeficiency virus (HIV) infection, but the cause is unknown. Formalin-fixed dorsal root ganglia (DRG), obtained at postmortem from patients with neuropathy and HIV infection and from control subjects, were examined for the presence of HIV DNA by u...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410420315
更新日期:1997-09-01 00:00:00
abstract::Hyperekplexia is a rare, autosomal dominant neurological disorder characterized by hypertonia, especially in infancy, and by an exaggerated startle response. This disorder is caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor (GLRA1). We previously reported two GLRA1 point mutations detected...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380115
更新日期:1995-07-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to investigate the role of CD8+ CD25+ FoxP3+ cells during the course of multiple sclerosis (MS). METHODS:Peripheral blood and cerebrospinal fluid (CSF) CD8+ T-cell clones (TCCs) recognizing autoreactive CD4+ T cells were isolated from 20 MS patients during exacerbations, 15 pa...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21944
更新日期:2010-05-01 00:00:00
abstract::Human T-cell lymphotropic virus type III (HTLV-III) has been isolated from neural tissues and cerebrospinal fluid (CSF) of patients with neurological syndromes associated with the acquired immune deficiency syndrome (AIDS) and the virus may be directly involved in the pathogenesis of the syndromes. To detect HTLV-III ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200304
更新日期:1986-09-01 00:00:00
abstract::Excessive astrocytosis in cortical tubers in tuberous sclerosis complex (TSC) suggests that astrocytes may be important for epileptogenesis in TSC. We previously demonstrated that astrocyte-specific Tsc1 gene inactivation in mice (Tsc1 cKO mice) results in progressive epilepsy. Here, we report that glutamate transport...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10648
更新日期:2003-08-01 00:00:00
abstract::Association studies have implicated common variants in the 12q14.1 region containing CYP27B1 in multiple sclerosis (MS). Rare CYP27B1 mutations cause autosomal recessive vitamin D-dependent rickets type 1, and it has recently been reported that heterozygous CYP27B1 mutations are associated with increased MS susceptibi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23834
更新日期:2013-03-01 00:00:00
abstract:OBJECTIVE:The relationship between genetic variation in the T-type calcium channel gene CACNA1H and childhood absence epilepsy is well established. The purpose of this study was to investigate the range of epilepsy syndromes for which CACNA1H variants may contribute to the genetic susceptibility architecture and determ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21169
更新日期:2007-12-01 00:00:00
abstract::Between 36 and 44 weeks after conception, telencephalic white matter in the newborn appears to be particularly vulnerable to insults that result in morphological disturbances. Available evidence indicates that this disorder (or group of disorders), named acquired perinatal leukoencephalopathy, reflects a decrease in b...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160102
更新日期:1984-07-01 00:00:00