Differential distribution of the normal and mutated forms of huntingtin in the human brain.

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

authors： Heron SE,Khosravani H,Varela D,Bladen C,Williams TC,Newman MR,Scheffer IE,Berkovic SF,Mulley JC,Zamponi GW

更新日期：2007-12-01 00:00:00

abstract：:A 40-year-old man with relapsing-remitting multiple sclerosis (MS) developed primary central nervous system lymphoma (PCNSL) after having received 21 doses of natalizumab monotherapy. PCNSL is a disease of the elderly, with the majority of patients being diagnosed in the 7th to 8th decade of life. Immunodeficiency, ia...

journal_title：Annals of neurology

authors： Schweikert A,Kremer M,Ringel F,Liebig T,Duyster J,Stüve O,Hemmer B,Berthele A

更新日期：2009-09-01 00:00:00

abstract：:Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian form...

journal_title：Annals of neurology

authors： Al Mutairi F,Alzahrani F,Ababneh F,Kashgari AA,Alkuraya FS

更新日期：2018-02-01 00:00:00

abstract：:Gustatory sweating is an autonomic disorder that frequently occurs after parotid gland surgery. We investigated the action of intracutaneous injections of botulinum toxin (BTX) (1.0-2.0 mouse units/2.25-cm2 skin area) in 45 patients (mean age, 52 years) with gustatory sweating. The area of hyperhidrosis was determined...

journal_title：Annals of neurology

authors： Naumann M,Zellner M,Toyka KV,Reiners K

更新日期：1997-12-01 00:00:00

abstract：:Pallidopyramidal disease is a rare disease of young patients in which they manifest a parkinsonian syndrome and pyramidal signs. Pallidopyramidal disease has been attributed to a degeneration of the pallidum and the pyramidal tract, although only 1 patient has been studied postmortem. In the present report, [18F]fluor...

journal_title：Annals of neurology

authors： Remy P,Hosseini H,Degos JD,Samson Y,Agid Y,Warter JM,Vidailhet M

更新日期：1995-12-01 00:00:00

abstract：:The mucopolysaccharidoses are caused by inherited deficiencies of lysosomal enzymes involved in the degradative pathway of glycosaminoglycans. Lysosomal storage leads to cellular and organ dysfunction, including mental retardation. Storage lesions are found throughout the diseased brain, but little is known about the ...

journal_title：Annals of neurology

authors： Heuer GG,Passini MA,Jiang K,Parente MK,Lee VM,Trojanowski JQ,Wolfe JH

更新日期：2002-12-01 00:00:00

abstract：:Patients are understandably anxious if seizures occur immediately after temporal lobectomy. Such "neighborhood" seizures are commonly regarded as irrelevant to seizure outcome and discounted in outcome measurement. We conducted an in-depth examination of early postoperative seizures (<28 days) and outcome. The risk of...

journal_title：Annals of neurology

authors： McIntosh AM,Kalnins RM,Mitchell LA,Berkovic SF

更新日期：2005-02-01 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

authors： Little BW,Brown PW,Rodgers-Johnson P,Perl DP,Gajdusek DC

更新日期：1986-08-01 00:00:00

abstract：:In Alzheimer's disease (AD), loss of cortical and hippocampal choline acetyltransferase (ChAT) activity has been correlated with dementia severity and disease duration, and it forms the basis for current therapies. However, the extent to which reductions in ChAT activity are associated with early cognitive decline has...

journal_title：Annals of neurology

authors： DeKosky ST,Ikonomovic MD,Styren SD,Beckett L,Wisniewski S,Bennett DA,Cochran EJ,Kordower JH,Mufson EJ

更新日期：2002-02-01 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

authors： Rogers D,Schor NF

更新日期：2010-02-01 00:00:00

abstract：:The rate of local cerebral glucose utilization was determined for quantification of energy metabolism in macrostructures of the sensorimotor system during propagation of focal motor seizures in 24-month-old monkeys. The rate was measured in 4 control animals and in 4 monkeys each with seizures limited to the contralat...

journal_title：Annals of neurology

authors： Caveness WF,Kato M,Malamut BL,Hosokawa S,Wakisaka S,O'Neill RR

更新日期：1980-03-01 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

authors： Login IS,Cronin MJ,MacLeod RM

更新日期：1982-09-01 00:00:00

abstract：:A 13-year-old boy with imipramine overdose developed seizures, respiratory arrest, and coma. Abnormalities of oculovestibular reflexes, electroencephalograms, and brainstem auditory evoked potentials were monitored in relation to measurements of drug levels. An alpha-coma electroencephalographic pattern evolved into o...

journal_title：Annals of neurology

authors： Pulst SM,Lombroso CT

更新日期：1983-11-01 00:00:00

abstract：:Myelination is a central nervous system (CNS) process wherein oligodendrocyte-axon interactions lead to the establishment of myelin sheaths that stabilize, protect, and electrically insulate axons. In inflammatory demyelinating diseases such as multiple sclerosis (MS), the degeneration and eventual loss of functional ...

journal_title：Annals of neurology

authors： Kremer D,Aktas O,Hartung HP,Küry P

更新日期：2011-04-01 00:00:00

abstract：:Recent neuroepidemiological studies of endemic tropical spastic paraparesis (TSP) have confirmed the existence of high-prevalence foci in several tropical islands, including Jamaica and Martinique in the Caribbean, Tumaco off the Pacific coast of Colombia, and the Seychelles in the Indian Ocean. There is a net prepond...

journal_title：Annals of neurology

authors： Román GC

更新日期：1988-01-01 00:00:00

abstract：:The term Charcot-Wilbrand syndrome (CWS) denotes dream loss following focal brain damage. We report the first case of CWS, in whom neuropsychological functions, extension of the underlying lesion, and sleep architecture changes were assessed. A 73-year-old woman reported a total dream loss after acute, bilateral occip...

journal_title：Annals of neurology

authors： Bischof M,Bassetti CL

更新日期：2004-10-01 00:00:00

abstract：:The pathogenetic role of anti-GM1 in chronic acquired demyelinating polyneuropathy (CADP) is uncertain. An association between antibodies and disease activity has not yet been established. In 8 patients with CADP followed longitudinally, anti-GM1 antibodies were monitored with a standardized enzyme-linked immunosorben...

journal_title：Annals of neurology

authors： Bech E,Andersen H,Orntoft TF,Jakobsen J

更新日期：1998-01-01 00:00:00

abstract：:Unexpected sudden death is a common event in otherwise healthy epileptics, though its etiology has remained unclear. Many authors have suggested cardiac arrhythmias as the cause, and limited data in humans and animal studies have supported this. However, autopsy series in humans have shown pulmonary edema, a phenomeno...

journal_title：Annals of neurology

authors： Johnston SC,Horn JK,Valente J,Simon RP

更新日期：1995-04-01 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

authors： Willoch F,Rosen G,Tölle TR,Oye I,Wester HJ,Berner N,Schwaiger M,Bartenstein P

更新日期：2000-12-01 00:00:00

abstract：:We report biochemical, immunological, and morphological findings in a patient with fatal Kearns-Sayre syndrome. Histochemical and biochemical findings from muscle biopsy specimens obtained 7 years apart documented the disease's evolution from a mild mitochondrial disorder affecting a small proportion of muscle fibers ...

journal_title：Annals of neurology

authors： Bresolin N,Moggio M,Bet L,Gallanti A,Prelle A,Nobile-Orazio E,Adobbati L,Ferrante C,Pellegrini G,Scarlato G

更新日期：1987-06-01 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

authors： Sposato LA,Ovbiagele B,Johnston SC,Fisher M,Saposnik G,Stroke Outcome Research Working Group (www.sorcan.ca).

更新日期：2014-08-01 00:00:00

abstract：:This study provides preliminary evidence that computer-derived parameters of interictal spike waveforms can be used to assess seizure hazard in a quantitative manner. Thirteen children with spike foci and simple or complex partial seizures were studied before and during treatment with carbamazepine or phenobarbital; s...

journal_title：Annals of neurology

authors： Frost JD Jr,Kellaway P,Hrachovy RA,Glaze DG,Mizrahi EM

更新日期：1986-12-01 00:00:00

abstract：:A 53-year-old man was diagnosed 8 years earlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC) activity. He was found to have eight nucleotide changes on the two copies of his GALC gene, including two in the leader sequence, four considered polymorphisms,...

journal_title：Annals of neurology

authors： Luzi P,Rafi MA,Wenger DA

更新日期：1996-07-01 00:00:00

abstract：:The titer of the scrapie agent was determined by measurements of time intervals from inoculation to onset of illness and from inoculation to death. Both intervals were found to be inversely proportional to the size of the dose injected intracerebrally into random-bred weanling Syrian hamsters. The logarithms of the ti...

journal_title：Annals of neurology

authors： Prusiner SB,Cochran SP,Groth DF,Downey DE,Bowman KA,Martinez HM

更新日期：1982-04-01 00:00:00

abstract：:Direct DNA tests for mutations in neurogenetic disorders are establishing a new era in diagnostic neurology. These highly accurate and specific tests will greatly improve diagnosis and genetic counseling, lead to more accurate assessment of prognosis, and reduce the cost of diagnostic evaluations. However, the use and...

journal_title：Annals of neurology

authors： Bird TD,Bennett RL

更新日期：1995-08-01 00:00:00

abstract：:Axonal degeneration is a major cause of permanent neurological deficit in multiple sclerosis (MS), but no current therapies for the disease are known to be effective at axonal protection. Here, we examine the ability of a sodium channel-blocking agent, flecainide, to reduce axonal degeneration in an experimental model...

journal_title：Annals of neurology

authors： Bechtold DA,Kapoor R,Smith KJ

更新日期：2004-05-01 00:00:00

abstract：OBJECTIVE:Mutations of the selenoprotein N gene (SEPN1) cause SEPN1-related myopathy (SEPN1-RM), a novel early-onset muscle disorder formerly divided into four different nosological categories. Selenoprotein N (SelN) is the only selenoprotein involved in a genetic disease; its function being unknown, no treatment is av...

journal_title：Annals of neurology

authors： Arbogast S,Beuvin M,Fraysse B,Zhou H,Muntoni F,Ferreiro A

更新日期：2009-06-01 00:00:00

abstract：:Successful axon regeneration depends on the expression of regeneration-associated genes by axotomized neurons. Here, we demonstrate, for the first time to our knowledge, the expression of regeneration-associated genes by axotomized human CNS neurons. In situ hybridization and immunohistochemistry showed a transient in...

journal_title：Annals of neurology

authors： Schmitt AB,Breuer S,Polat L,Pech K,Kakulas B,Love S,Martin D,Schoenen J,Noth J,Brook GA

更新日期：2003-10-01 00:00:00

abstract：:Brain tissue from normal individuals with incidental Lewy bodies and cell loss in pigmented substantia nigra neurons (asymptomatic Parkinson's disease) and age-matched control subjects without nigral Lewy bodies was examined biochemically. There was no difference in dopamine levels or dopamine turnover in the caudate ...

journal_title：Annals of neurology

authors： Dexter DT,Sian J,Rose S,Hindmarsh JG,Mann VM,Cooper JM,Wells FR,Daniel SE,Lees AJ,Schapira AH

更新日期：1994-01-01 00:00:00

abstract：:Mutations in genes encoding the NADH ubiquinone oxidoreductase, complex I of the respiratory chain, cause a diverse group of diseases. They include Leber hereditary optic neuropathy, Leigh syndrome, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. There is no effective treatment for t...

journal_title：Annals of neurology

authors： Qi X,Lewin AS,Sun L,Hauswirth WW,Guy J

更新日期：2004-08-01 00:00:00