Abstract:
:Visual (VEP), brainstem auditory (BAEP), and somatosensory (SEP) evoked potential tests were performed in 45 patients representing ten types of inherited disorders in which ataxia was the most prominent symptom. Comparable VEP abnormalities were present among all types of patients. Normal BAEP tests were recorded in most patients except those with olivopontocerebellar atrophy. SEP results were often more severely abnormal in patients with Friedreich's ataxia. The observations emphasize the similarity in expression of different metabolic-degenerative disorders. When these tests are used clinically, certain features of evoked potentials (especially left-right symmetry) are typical of the inherited ataxias as a group. Few distinguishing features differentiate the individual disorders.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Nuwer MR,Perlman SL,Packwood JW,Kark RAdoi
10.1002/ana.410130106subject
Has Abstractpub_date
1983-01-01 00:00:00pages
20-7issue
1eissn
0364-5134issn
1531-8249journal_volume
13pub_type
杂志文章abstract::A number of chemically unrelated neurotoxic compounds and several types of metabolic abnormalities cause strikingly similar patterns of distal symmetrical polyneuropathy in humans and animals. Experimental studies with laboratory species have demonstrated that many toxic polyneuropathies are associated with distal and...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410050602
更新日期:1979-06-01 00:00:00
abstract::Brains from male cases with dyslexia show symmetry of the planum temporale and predominantly left-sided cerebrocortical microdysgenesis. We now report on three women with dyslexia. In all brains, the planum temporale was again symmetrical. Also, in two of the brains, multiple foci of cerebrocortical glial scarring wer...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280602
更新日期:1990-12-01 00:00:00
abstract::Only 6 patients with intracranial hypertension associated with unruptured cerebral arteriovenous malformations have been reported. We report 6 additional patients seen at the Cleveland Clinic during the past 10 years. The average age was 28 years (range, 19-44 years); 4 were women. Symptoms and signs included papilled...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410270504
更新日期:1990-05-01 00:00:00
abstract::We compared epilepsy phenotypes with genotypes of Angelman syndrome (AS), including chromosome 15q11-13 deletions (class I), uniparental disomy (class II), methylation imprinting abnormalities (class III), and mutation in the UBE3A gene (class IV). Twenty patients were prospectively selected based on clinical cytogene...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410430412
更新日期:1998-04-01 00:00:00
abstract:OBJECTIVE:In multiple sclerosis (MS), cerebral gray matter (GM) atrophy correlates more strongly than white matter (WM) atrophy with disability. The corresponding relationships in the spinal cord (SC) are unknown due to technical limitations in assessing SC GM atrophy. Using phase-sensitive inversion recovery (PSIR) ma...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24241
更新日期:2014-10-01 00:00:00
abstract::Guillain-Barré syndrome (GBS) is an immune-mediated neuropathy, in which leukocytes and humoral components of the immune system proposedly initiate localized inflammation. An important pathogenic role for anti-GM1 ganglioside antibodies has been suggested. Therefore, we evaluated anti-GM1 IgG antibody-induced leukocyt...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10503
更新日期:2003-05-01 00:00:00
abstract::Three young adults with intractable complex partial seizures were studied by electroencephalography, magnetoencephalography, and electrocorticography. Interictal electroencephalographic (EEG) spikes for each patient were grouped according to their morphological characteristics and distribution across channels. Mapping...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410220311
更新日期:1987-09-01 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::A 37-year-old woman with primary Sjögren syndrome developed mixed cryoglobulinemia and systemic vasculitis. Subarachnoid hemorrhage occurred as a result of necrotizing anterior spinal arteritis. Although rarely seen in mixed cryoglobulinemia, central nervous system complications have recently been documented in Sjögre...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410110614
更新日期:1982-06-01 00:00:00
abstract:OBJECTIVE:Deletions of CACNA1A, encoding the α1 subunit of CaV 2.1 channels, cause epilepsy with ataxia in humans. Whereas the deletion of Cacna1a in γ-aminobutyric acidergic (GABAergic) interneurons (INs) derived from the medial ganglionic eminence (MGE) impairs cortical inhibition and causes generalized seizures in N...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25301
更新日期:2018-09-01 00:00:00
abstract::Although Alzheimer's and Parkinson's diseases predominately affect elderly adults, the proteins that play a role in the pathogenesis of these diseases are expressed throughout life. In fact, many of the proteins hypothesized to be important in the progression of neurodegeneration play direct or indirect roles in the d...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.21841
更新日期:2010-02-01 00:00:00
abstract::Homocarnosine, a dipeptide of gamma-aminobutyric acid (GABA) and histidine, is thought to be an inhibitory neuromodulator synthesized in subclasses of GABAergic neurons. Homocarnosine is present in human brain in greater amounts (0.4-1.0 micromol/g) than in other animals. The antiepileptic drug vigabatrin increases hu...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410440614
更新日期:1998-12-01 00:00:00
abstract::Macrophages are prominent participants in inflammatory demyelinating neuropathies. To provide a different means of evaluating macrophage behavior, we used immunostaining of teased nerve fibers and endoneurial blood vessels. We assessed the frequency with which macrophages were seen in inflammatory demyelinating neurop...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410270717
更新日期:1990-01-01 00:00:00
abstract::In Machado-Joseph disease (MJD) gene, there is a C/G polymorphism immediately after the CAG repeat; the expanded CAG repeat tract is exclusively followed by C, whereas about half of wild-type alleles are followed by G. Using this C/G polymorphism, we have engineered the small interfering RNA (siRNA) which decreased th...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20141
更新日期:2004-07-01 00:00:00
abstract::The integrity of the hypothalamic neuroendocrine dopaminergic neurons in Parkinson's disease was assessed by comparing the numbers and distribution of melanin-pigmented neurons in the arcuate and periventricular nuclei in 7 parkinsonian and 5 normal brains. No significant differences were observed. In contrast to theo...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410180507
更新日期:1985-11-01 00:00:00
abstract:OBJECTIVE:Abnormal cortical excitability is evident in various movement disorders that compromise fine motor control. Here we tested whether skilled finger movements can be restored in musicians with focal hand dystonia through behavioral training assisted by transcranial direct current stimulation to the motor cortex ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24151
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:A better understanding of the manuscript peer-review process could improve the likelihood that research of the highest quality is funded and published. To this end, we aimed to assess consistency across reviewers' recommendations, agreement between reviewers' recommendations and editors' final decisions, and ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24218
更新日期:2014-08-01 00:00:00
abstract::The development of a neuroprotective therapy that slows, stops, or reverses neurodegeneration in Parkinson's disease (PD) is the single most important unresolved issue in the management of this disorder. Current therapies provide effective control of symptoms, particularly in the early stages of the disease, but disea...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.21461
更新日期:2008-12-01 00:00:00
abstract::A non-right-handed patient developed alexia without agraphia from a right occipital lobe infarction. An intracarotid amobarbital test showed left hemispheric dominance for speech. The cause of alexia in this patient could not be explained simply by the accepted disconnection hypothesis, which proposes that speech, han...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030617
更新日期:1978-06-01 00:00:00
abstract::Regional cerebral blood flow (rCBF) was measured in human subjects during saccadic eye movements by a 254-channel dynamic gamma camera. Focal rCBF increases were repeatedly observed in an area within the middle precentral and premotor regions which corresponds to the frontal eye field in humans. Our findings suggest t...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410050112
更新日期:1979-01-01 00:00:00
abstract::We describe 5 patients who presented with an acute cauda equina syndrome, which we believe was due to infarction of the conus medullaris. In 3 patients, the onset was spontaneous, and in 2 patients it was secondary to temporary occlusion of the distal aorta during medical manipulation. Pain in the buttocks and posteri...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410210510
更新日期:1987-05-01 00:00:00
abstract:OBJECTIVE:The cortex of patients with cortical dysplasia contains several abnormal cell types. Among the dysplastic cells, cytomegalic neurons are known to be electrically hyperactive and may contribute to epileptic activity. In this study, we sought to identify molecular markers of cytomegalic neurons in focal or hemi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20949
更新日期:2006-10-01 00:00:00
abstract::Positron emission tomography (PET) of glucose metabolism is often applied for the localization of epileptogenic brain regions, but hypometabolic areas are often larger than or can miss epileptogenic cortex in nonlesional neocortical epilepsy. The present study is a three-dimensional brain surface analysis designed to ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-07-01 00:00:00
abstract::Chronic progressive myelopathy (CPM) is a difficult clinical problem. Many patients who present with CPM turn out to have a spinal form of multiple sclerosis (MS), but until there is clear lesion dissemination, a definite clinical diagnosis cannot be made. We have looked for MS-related abnormalities in 72 patients wit...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410060508
更新日期:1979-11-01 00:00:00
abstract::In aphasia due to stroke, language-related activity shifts not only to undamaged cortex within the dominant hemisphere but also toward right-sided areas homotopical to the left-sided lesion. We examined whether a rightward shift takes place in primary progressive aphasia (PPA). Nineteen PPA patients participated, 19 h...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.20588
更新日期:2005-09-01 00:00:00
abstract::Calcium/calmodulin-dependent serine protein kinase (CASK) belongs to the membrane-associated guanylate kinase protein family. The members of this protein family function as multiple domain adaptor proteins originally identified at cell junctions and synapses. Insertional mutations or targeted disruption of the CASK ge...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.21755
更新日期:2009-10-01 00:00:00
abstract:OBJECTIVE:To examine age-related changes in the neural systems for reading in nonimpaired and dyslexic children and adolescents. METHODS:Functional magnetic resonance imaging was used to study age-related changes in the neural systems for reading in a cross-sectional sample of 232 right-handed children 7 to 18 years o...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21093
更新日期:2007-04-01 00:00:00
abstract::The incidence of periventricular-intraventricular hemorrhage (PV-IVH) in a group of 460 preterm infants with birth weight less than 2,250 gm, studied by cranial ultrasonography, was 39%. Sixty-four (36%) of the infants with periventricular-intraventricular hemorrhage had, in addition, periventricular intraparenchymal ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150315
更新日期:1984-03-01 00:00:00
abstract::We describe a young child with tuberous sclerosis and cardiac rhabdomyoma who developed reversible heart block after being placed on carbamazepine treatment for seizures. Patients of any age with known or suspected intrinsic cardiac disease should be monitored for conduction disturbance if they are treated with carbam...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410340417
更新日期:1993-10-01 00:00:00
abstract::Mutations of the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause autosomal recessive Charcot-Marie-Tooth disease type 4A. We report four additional families with recessive mutations (487C-->T, Q163X; 359G-->A, R120Q) of GDAP1; Q163X occurred in three unrelated Hispanic families that had the...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10505
更新日期:2003-03-01 00:00:00