Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset.

abstract：OBJECTIVE:Infantile spasms are seizures associated with a severe epileptic encephalopathy presenting in the first 2 years of life, and optimal treatment continues to be debated. This study evaluates early and sustained response to initial treatments and addresses both clinical remission and electrographic resolution of...

journal_title：Annals of neurology

authors： Knupp KG,Coryell J,Nickels KC,Ryan N,Leister E,Loddenkemper T,Grinspan Z,Hartman AL,Kossoff EH,Gaillard WD,Mytinger JR,Joshi S,Shellhaas RA,Sullivan J,Dlugos D,Hamikawa L,Berg AT,Millichap J,Nordli DR Jr,Wirrell E,

更新日期：2016-03-01 00:00:00

abstract：:Autosomal dominant spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of neurodegenerative disorders. Recently, mild CAG repeat expansion in the alpha1A voltage-dependent calcium channel gene has been found to be associated with a type of autosomal dominant SCA (SCA6). We analyzed 98 J...

journal_title：Annals of neurology

authors： Ikeuchi T,Takano H,Koide R,Horikawa Y,Honma Y,Onishi Y,Igarashi S,Tanaka H,Nakao N,Sahashi K,Tsukagoshi H,Inoue K,Takahashi H,Tsuji S

更新日期：1997-12-01 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

authors： Kuzniecky R,Berkovic S,Andermann F,Melanson D,Olivier A,Robitaille Y

更新日期：1988-04-01 00:00:00

abstract：:A patient with recessive generalized congenital myotonia and severe, disabling weakness underwent various forms of treatment while being monitored electrophysiologically. Phenytoin, verapamil, and acetazolamide were ineffective, but tocainide yielded good results. Improvement was dose-dependent, and was limited by irr...

journal_title：Annals of neurology

authors： Streib EW

更新日期：1986-05-01 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：:Authorship of scientific publications holds great importance for basic and clinical researchers. Academic appointments and promotions, grant funding, and salary support depend to some extent on published recognition through authorship. Peer-recognition and personal satisfaction are additional incentives for authorship...

journal_title：Annals of neurology

authors： Kaufmann P,Annis C,Griggs RC,Muscle Study Group Executive Committee.

更新日期：2010-12-01 00:00:00

abstract：:Ross River virus (strain T48) infection in mice causes an encephalomyelitis characterized by focal, primary demyelination in the cerebellum, brain stem, and spinal cord. Maximal serum and brain content of virus occurs on days 2 and 4, respectively. Virus is not detectable in serum after day 3 or in brain after day 9. ...

journal_title：Annals of neurology

authors： Seay AR,Wolinsky JS

更新日期：1982-10-01 00:00:00

abstract：:We report four children with idiopathic stroke syndromes who were assayed for human leukocyte antigen (HLA) class I markers and found to have HLA-B51 in common. This finding suggests that there may be a genetic predisposition for "idiopathic" childhood stroke, and host factors, possibly in concert with environmental f...

journal_title：Annals of neurology

authors： Mintz M,Epstein LG,Koenigsberger MR

更新日期：1992-06-01 00:00:00

abstract：:Positron emission tomography (PET) of brain glucose utilization is highly sensitive in detecting focal cortical abnormalities in patients with infantile spasms even when the computed tomographic (CT) and magnetic resonance imaging (MRI) scans are normal. Of 110 infants with spasms evaluated for potential surgical inte...

journal_title：Annals of neurology

authors： Chugani HT,Da Silva E,Chugani DC

更新日期：1996-05-01 00:00:00

abstract：:The object of this study was to determine the concordance of the anatomical location of interictal magnetoencephalographic (MEG) spike foci with the location of ictal onset zones identified by invasive ictal intracranial electroencephalographic recordings in children undergoing evaluation for epilepsy surgery. MEG was...

journal_title：Annals of neurology

authors： Minassian BA,Otsubo H,Weiss S,Elliott I,Rutka JT,Snead OC 3rd

更新日期：1999-10-01 00:00:00

abstract：:Mutations in AbetaPP cause deposition of Abeta amyloid fibrils in brain parenchyma and cerebral vessels, resulting in Alzheimer's disease (AD) and/or cerebral amyloid angiopathy (CAA). We report a novel mutation (L705V) within the Abeta sequence of AbetaPP in a family with autosomal dominant, recurrent intracerebral h...

journal_title：Annals of neurology

authors： Obici L,Demarchi A,de Rosa G,Bellotti V,Marciano S,Donadei S,Arbustini E,Palladini G,Diegoli M,Genovese E,Ferrari G,Coverlizza S,Merlini G

更新日期：2005-10-01 00:00:00

abstract：:The cause and pathophysiology of dystonia remain unknown. The recent identification of mitochondrial complex I deficiency in platelets from patients with sporadic focal dystonia suggests that a defect of energy metabolism may be relevant in a proportion of patients. We have addressed the possible contribution of mitoc...

journal_title：Annals of neurology

authors： Tabrizi SJ,Cooper JM,Schapira AH

更新日期：1998-08-01 00:00:00

abstract：:The genetic architecture of common epilepsies is largely unknown. HCNs are excellent epilepsy candidate genes because of their fundamental neurophysiological roles. Screening in subjects with febrile seizures and genetic epilepsy with febrile seizures plus revealed that 2.4% carried a common triple proline deletion (d...

journal_title：Annals of neurology

authors： Dibbens LM,Reid CA,Hodgson B,Thomas EA,Phillips AM,Gazina E,Cromer BA,Clarke AL,Baram TZ,Scheffer IE,Berkovic SF,Petrou S

更新日期：2010-04-01 00:00:00

abstract：:We describe two new clinical syndromes, mirror agnosia and mirror ataxia, both characterized by the deficit of reaching for an object through a mirror in association with a lesion of either parietal lobe. Clinical investigation of 13 patients demonstrated that the impairments affected both sides of the body. In mirror...

journal_title：Annals of neurology

authors： Binkofski F,Buccino G,Dohle C,Seitz RJ,Freund HJ

更新日期：1999-07-01 00:00:00

abstract：:Ten laminin alpha2-deficient patients were identified by both immunofluorescence and immunoblotting (30% of congenital muscular dystrophy patients tested). Three of the laminin alpha2-deficient patients were carrying a diagnosis of infantile polymyositis prior to immunostaining studies. The clinical features in the 10...

journal_title：Annals of neurology

authors： Pegoraro E,Mancias P,Swerdlow SH,Raikow RB,Garcia C,Marks H,Crawford T,Carver V,Di Cianno B,Hoffman EP

更新日期：1996-11-01 00:00:00

abstract：:Bilateral ptosis is reported with unilateral hemispheric lesions, suggesting partial lateralization of the control of the levator palpebrae superioris. There is a tight synkinesis between vertical eye and eyelid movements, but a similar, lateralized control of vertical gaze has not been previously described. We report...

journal_title：Annals of neurology

authors： Averbuch-Heller L,Stahl JS,Remler BF,Leigh RJ

更新日期：1996-09-01 00:00:00

abstract：:A 10-year-old boy developed progressive dystonia and dementia. His symptoms had begun at age 2 1/2 years, and he had been unable to walk by 8 years. At age 10 he was severely dystonic, unable to use his hands to feed himself, and almost anarthric . He had dysphagia and urinary incontinence, and functioned at a 4-year-...

journal_title：Annals of neurology

authors： Meek D,Wolfe LS,Andermann E,Andermann F

更新日期：1984-04-01 00:00:00

abstract：:Four examples of grossly mineralized lesions of the brain, causing seizures, are described; they include 2 hamartomas, a choristoma (novel associations), and an idiopathic "brain stone." Each was detectable with routine roentgenograms, and the seizures were ameliorated by surgical therapy. ...

journal_title：Annals of neurology

authors： Averback P

更新日期：1977-10-01 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：OBJECTIVE:Accurate identification of the ischemic penumbra, the therapeutic target in acute clinical stroke, is of critical importance to identify patients who might benefit from reperfusion therapies beyond the established time windows. Therefore, we aimed to validate magnetic resonance imaging (MRI) mismatch-based pe...

journal_title：Annals of neurology

authors： Zaro-Weber O,Fleischer H,Reiblich L,Schuster A,Moeller-Hartmann W,Heiss WD

更新日期：2019-06-01 00:00:00

abstract：OBJECTIVE:Multiple sclerosis (MS) is a chronic neuroinflammatory and neurodegenerative disease of unknown etiology. Although the prevalent view regards a CD4+ -lymphocyte autoimmune reaction against myelin at the root of the disease, recent studies propose autoimmunity as a secondary reaction to idiopathic brain damage...

journal_title：Annals of neurology

authors： Luchicchi A,Hart B,Frigerio I,van Dam AM,Perna L,Offerhaus HL,Stys PK,Schenk GJ,Geurts JJG

更新日期：2021-01-06 00:00:00

abstract：:Multiple sclerosis (MS) is characterized by patchy accumulations of inflammatory cells combined with demyelination. There are mononuclear cells in blood and cerebrospinal fluid of patients with MS that produce interferon-gamma and interleukin-4 in response to myelin basic protein (MBP) and proteolipid protein (PLP). H...

journal_title：Annals of neurology

authors： Link J,Fredrikson S,Söderström M,Olsson T,Höjeberg B,Ljungdahl A,Link H

更新日期：1994-02-01 00:00:00

abstract：:We have developed a radioimmunoassay to measure a specific neurological component, the basic protein of myelin, and have used this test for assessing this component in spinal fluid. The levels of basic protein in spinal fluid correlate closely with the clinical activity of multiple sclerosis; therefore the test can be...

journal_title：Annals of neurology

authors： Cohen SR,Brooks BR,Herndon RM,McKhann GM

更新日期：1980-07-01 00:00:00

abstract：:Caloric vestibular testing induced nystagmus in a patient with an isoelectric electroencephalogram after cardiopulmonary arrest. This has been demonstrated previously in patients in a chronic persistent vegetative state with intact brainstem reflexes, but never in a patient with an isoelectric electroencephalogram. An...

journal_title：Annals of neurology

authors： Nayyar M,Strobos RJ,Singh BM,Brown-Wagner M,Pucillo A

更新日期：1987-01-01 00:00:00

abstract：:Inborn errors of urea synthesis can present in the newborn period as a catastrophic illness or later in childhood or adulthood with an indolent course punctuated by hyperammonemic episodes. Because symptoms mimic other neuropsychiatric disorders, it is common for there to be a delay in diagnosis, often with dire conse...

journal_title：Annals of neurology

authors： Batshaw ML

更新日期：1994-02-01 00:00:00

abstract：:Indirect evidence suggests that an autoimmune response to myelin basic protein (MBP) may be involved in the pathogenesis of multiple sclerosis (MS). In MS, several reports have suggested that restricted T-cell populations respond to MPB, as in inbred rodents with the MS disease model experimental allergic encephalomye...

journal_title：Annals of neurology

authors： Joshi N,Usuku K,Hauser SL

更新日期：1993-09-01 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：:Polymorphonuclear neutral protease activity (PMN-NPA) was examined in 87 patients with definite multiple sclerosis (MS) (48 active, 39 inactive), 49 patients with other neurological diseases (OND), 24 patients with immune-mediated non-neurological diseases (INND), and 32 normal subjects. PMN-NPA was found to be signif...

journal_title：Annals of neurology

authors： Guarnieri B,Lolli F,Amaducci L

更新日期：1985-11-01 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：:We studied patients with partial and primary generalized seizures using fluorine-18-labeled 2-fluorodeoxyglucose and positron emission tomography. Interictal studies of patients with partial seizures showed regions of focal or lateralized hypometabolism in 15 of 17 patients with unilateral electroencephalographic foci...

journal_title：Annals of neurology

authors： Theodore WH,Brooks R,Sato S,Patronas N,Margolin R,Di Chiro G,Porter RJ

更新日期：1984-01-01 00:00:00