Motor nerve biopsy: clinical usefulness and histopathological criteria.

abstract：:Recently, the mutation causing early-onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate-binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 patients, the disease ...

journal_title：Annals of neurology

authors： Gasser T,Windgassen K,Bereznai B,Kabus C,Ludolph AC

更新日期：1998-07-01 00:00:00

abstract：OBJECTIVE:Genetic variants of the cytoplasmic FMR1-interacting protein 2 (CYFIP2) encoding an actin-regulatory protein are associated with brain disorders, including intellectual disability and epilepsy. However, specific in vivo neuronal defects and potential treatments for CYFIP2-associated brain disorders remain lar...

journal_title：Annals of neurology

authors： Lee SH,Zhang Y,Park J,Kim B,Kim Y,Lee SH,Kim GH,Huh YH,Lee B,Kim Y,Lee Y,Kim JY,Kang H,Choi SY,Jang S,Li Y,Kim S,Jin C,Pang K,Kim E,Lee Y,Kim H,Kim E,Choi JH,Kim J,Lee KJ,Choi SY,Han K

更新日期：2020-09-01 00:00:00

abstract：:Two patients with biopsy-proved progressive multifocal leukoencephalopathy (PML) were treated with near-maximal doses of adenine arabinoside (Ara-A), 18.6 and 20 mg per kilogram of body weight per day for 14 days. In both patients, clinical progression of the disease was correlated with an increase in the size of low-...

journal_title：Annals of neurology

authors： Rand KH,Johnson KP,Rubinstein LJ,Wolinsky JS,Penney JB,Walker DL,Padgett BL,Merigan TC

更新日期：1977-05-01 00:00:00

abstract：:Mitochondria are cellular organelles crucial for energy supply and calcium homeostasis in neuronal cells, and their dysfunction causes seizure activity in some rare human epilepsies. To directly test whether mitochondrial respiratory chain enzymes are abnormal in the most common form of chronic epilepsy, temporal lobe...

journal_title：Annals of neurology

authors： Kunz WS,Kudin AP,Vielhaber S,Blümcke I,Zuschratter W,Schramm J,Beck H,Elger CE

更新日期：2000-11-01 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：: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：:We examined binding to excitatory amino acid and inhibitory amino acid receptors in frozen hippocampal sections prepared from surgical specimens resected from 8 individuals with medically refractory temporal lobe epilepsy. The excitatory receptors studied included N-methyl-D-aspartate (NMDA), strychnine-insensitive gl...

journal_title：Annals of neurology

authors： McDonald JW,Garofalo EA,Hood T,Sackellares JC,Gilman S,McKeever PE,Troncoso JC,Johnston MV

更新日期：1991-05-01 00:00:00

abstract：:Parkinsonism occurs in approximately 35 to 40% of patients with Alzheimer's disease (AD) even with little or no neuronal degeneration in the substantia nigra, which in idiopathic Parkinson's disease (PD) results in the severe loss of striatal dopamine transporter sites. It is not known if there is a loss of striatal d...

journal_title：Annals of neurology

authors： Murray AM,Weihmueller FB,Marshall JF,Hurtig HI,Gottleib GL,Joyce JN

更新日期：1995-03-01 00:00:00

abstract：:Intracytoplasmic aggregation of alpha-synuclein protein as Lewy bodies in the brainstem neurons is diagnostic for Parkinson's disease, whereas if this process also occurs in the cortical neurons, it is considered pathognomonic for dementia with Lewy bodies. However, the link between alpha-synuclein incorporation into ...

journal_title：Annals of neurology

authors： Parkkinen L,Kauppinen T,Pirttilä T,Autere JM,Alafuzoff I

更新日期：2005-01-01 00:00:00

abstract：:The present study aimed at determining the distribution and somatotopical organization of striatal activation during performance of simple motor tasks. Ten right-handed healthy volunteers were studied by using a 3-T whole-body magnetic resonance unit and echo planar imaging. The tasks consisted of self-paced flexion/e...

journal_title：Annals of neurology

authors： Lehéricy S,van de Moortele PF,Lobel E,Paradis AL,Vidailhet M,Frouin V,Neveu P,Agid Y,Marsault C,Le Bihan D

更新日期：1998-09-01 00:00:00

abstract：:Platelet-derived growth factor (PDGF) ligand is a potent glial cell mitogen. When its cognate receptor (PDGF-alphaR) is expressed on oligodendroglial lineage cells, such cells are considered capable of division, and the receptor thus serves as a phenotypic marker for oligodendrocyte precursor cells. Here we identify u...

journal_title：Annals of neurology

authors： Maeda Y,Solanky M,Menonna J,Chapin J,Li W,Dowling P

更新日期：2001-06-01 00:00:00

abstract：:The clinical and neuropathological findings in 28 cases of paramedian thalamic and midbrain infarcts are reported. The 4 instances of unilateral paramedian thalamic infarct were characterized by mood and behavioral changes, limitation of the infarct to the center of the anatomical paramedian territory, and symmetrical...

journal_title：Annals of neurology

authors： Castaigne P,Lhermitte F,Buge A,Escourolle R,Hauw JJ,Lyon-Caen O

更新日期：1981-08-01 00:00:00

abstract：:The North American study of plasmapheresis in Guillain-Barré syndrome (GBS) included early, standardized electrodiagnostic testing in 210 of the 245 patients. To determine the types of abnormalities and the relation to outcome, we analyzed the prospectively collected motor conduction data obtained during the first 30 ...

journal_title：Annals of neurology

authors： Cornblath DR,Mellits ED,Griffin JW,McKhann GM,Albers JW,Miller RG,Feasby TE,Quaskey SA

更新日期：1988-04-01 00:00:00

abstract：:A 51-year-old man presented with a six-year history of gradually progressive exertional dyspnea. His complaint was attributed to increasing age, but evaluation finally led to a diagnosis of diaphragmatic paralysis. Neurological examination disclosed only minimal evidence of weakness of limb muscles. Electromyographic ...

journal_title：Annals of neurology

authors： Sivak ED,Salanga VD,Wilbourn AJ,Mitsumoto H,Golish J

更新日期：1981-06-01 00:00:00

abstract：:The long-term effects of brief but repetitive febrile seizures (FS) on memory have not been as thoroughly investigated as the impact of single and prolonged seizure in the developing brain. Using a heated-air FS paradigm, we subjected male rat pups to one, three, or nine episodes of brief FS on days 10 to 12 postpartu...

journal_title：Annals of neurology

authors： Chang YC,Huang AM,Kuo YM,Wang ST,Chang YY,Huang CC

更新日期：2003-12-01 00:00:00

abstract：:Endoneurial fluid pressure (EFP) was recorded by an active, servo-null pressure system after a glass micropipette was inserted into rat sciatic nerve undergoing wallerian degeneration. The lesions were produced by crushing the left sciatic nerve of the anesthetized animal at its point of entry into the thigh. Eighty-f...

journal_title：Annals of neurology

authors： Powell HC,Myers RR,Costello ML,Lampert PW

更新日期：1979-06-01 00:00:00

abstract：:To examine the antiparkinsonian effects of blocking glycineB receptors, we designed a pilot study testing the potent and selective antagonist, PAMQX, in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-treated primates. PAMQX had no intrinsic effects but markedly potentiated the antiparkinsonian action of levodopa. In a d...

journal_title：Annals of neurology

authors： Papa SM,Auberson YP,Greenamyre JT

更新日期：2004-11-01 00:00:00

abstract：OBJECTIVE:C9orf72 expansion is the most common genetic cause of frontotemporal dementia (FTD). We examined aging trajectories of cortical thickness (CTh) and surface area in C9orf72 expansion adult carriers compared to healthy controls to characterize preclinical cerebral changes leading to symptoms. METHODS:Data were...

journal_title：Annals of neurology

authors： Le Blanc G,Jetté Pomerleau V,McCarthy J,Borroni B,van Swieten J,Galimberti D,Sanchez-Valle R,LaForce R Jr,Moreno F,Synofzik M,Graff C,Masellis M,Tartaglia MC,Rowe JB,Vandenberghe R,Finger E,Tagliavini F,de Mendonça A,

更新日期：2020-07-01 00:00:00

abstract：:Instrumental neutron activation analysis procedures were used to determine the aluminum content of various brain regions in histologically verified Alzheimer disease (AD) and in controls. The grand mean aluminum level for 74 AD specimens was 0.372 +/- 0.058 microgram/gm and for 137 adult controls, 0.467 +/- 0.033 micr...

journal_title：Annals of neurology

authors： Markesbery WR,Ehmann WD,Hossain TI,Alauddin M,Goodin DT

更新日期：1981-12-01 00:00:00

abstract：OBJECTIVE:Neuronal loss, a key substrate of irreversible disability in multiple sclerosis (MS), is a recognized feature of MS cortical pathology of which the cause remains unknown. Fibrin(ogen) deposition is neurotoxic in animal models of MS, but has not been evaluated in human progressive MS cortex. The aim of this st...

journal_title：Annals of neurology

authors： Yates RL,Esiri MM,Palace J,Jacobs B,Perera R,DeLuca GC

更新日期：2017-08-01 00:00:00

abstract：:Mutations in DJ-1 (PARK7) have been reported in two consanguineous families with young-onset Parkinson's disease (YOPD). This study aims to confirm the presence of pathogenic DJ-1 mutations and determine their contribution in young-onset and more typical later onset Parkinson's disease (PD). The entire open reading fr...

journal_title：Annals of neurology

authors： Abou-Sleiman PM,Healy DG,Quinn N,Lees AJ,Wood NW

更新日期：2003-09-01 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：:A primary haplotype (H1) of the microtubule-associated protein Tau (MAPT) gene is associated with Parkinson's disease (PD). However, the mechanism for disease susceptibility remains unknown. We examined the promoter region of MAPT and identified single nucleotide polymorphisms and insertions of 1 to 11 nucleotides. Th...

journal_title：Annals of neurology

authors： Kwok JB,Teber ET,Loy C,Hallupp M,Nicholson G,Mellick GD,Buchanan DD,Silburn PA,Schofield PR

更新日期：2004-03-01 00:00:00

abstract：OBJECTIVE:We aimed to determine the risk of short- and long-term stroke, as well as accidental injury, in patients discharged from an emergency department who were given a diagnosis of a peripheral vestibular disorder. METHODS:In this population-based, retrospective, cohort study, we identified all adult patients who ...

journal_title：Annals of neurology

authors： Atzema CL,Grewal K,Lu H,Kapral MK,Kulkarni G,Austin PC

更新日期：2016-01-01 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

authors： Furuya S,Nitsche MA,Paulus W,Altenmüller E

更新日期：2014-05-01 00:00:00

abstract：:We report the use of a new stable isotope-labeled form of levodopa (LD) to examine in vivo central LD metabolism in Parkinson's disease (PD). Eight patients representing a wide spectrum of disease severity were administered 50 mg of carbidopa orally followed in 1 hour by an intravenous bolus of 150 mg of stable isotop...

journal_title：Annals of neurology

authors： Durso R,Evans JE,Josephs E,Szabo GK,Evans BA,Handler JS,Jennings D,Browne TR

更新日期：1997-09-01 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

authors： Biffi A,Kuramatsu JB,Leasure A,Kamel H,Kourkoulis C,Schwab K,Ayres AM,Elm J,Gurol ME,Greenberg SM,Viswanathan A,Anderson CD,Schwab S,Rosand J,Testai FD,Woo D,Huttner HB,Sheth KN

更新日期：2017-11-01 00:00:00

abstract：:Huntington's disease is a genetic disorder that causes motor dysfunction, personality changes, dementia, and premature death. There is currently no effective therapy. Several transgenic models of Huntington's disease are available, the most widely used of which is the R6/2 mouse, because of its rapid disease progressi...

journal_title：Annals of neurology

authors： Hockly E,Cordery PM,Woodman B,Mahal A,van Dellen A,Blakemore C,Lewis CM,Hannan AJ,Bates GP

更新日期：2002-02-01 00:00:00

abstract：:Existing and emerging viral central nervous system (CNS) infections are major sources of human morbidity and mortality. Treatments of proven efficacy are currently limited predominantly to herpesviruses and human immunodeficiency virus (HIV). Development of new therapies has been hampered by the lack of appropriate an...

journal_title：Annals of neurology

authors： Nath A,Tyler KL

更新日期：2013-09-01 00:00:00

abstract：:Nine patients who had suffered strokes were examined between 10 and 34 days after onset using positron emission tomography. DMO labeled with carbon 11 was used to evaluate brain acid-base balance, and the oxygen-15 inhalation technique was used to measure regional cerebral blood flow, the oxygen extraction fraction, a...

journal_title：Annals of neurology

authors： Syrota A,Castaing M,Rougemont D,Berridge M,Baron JC,Bousser MG,Pocidalo JJ

更新日期：1983-10-01 00:00:00