Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion.

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：: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：: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：:Two brothers with profound neonatal hypotonia and hyporeflexia and electrodiagnostic testing consistent with lower motor neuron pathology were found to have a leukodystrophy. Using single-strand conformational polymorphism analysis and direct sequencing, a mutation within exon 3 of the gene encoding proteolipid protei...

journal_title：Annals of neurology

authors： Kaye EM,Doll RF,Natowicz MR,Smith FI

更新日期：1994-12-01 00:00:00

abstract：OBJECTIVE:Lymphocytic choriomeningitis virus (LCMV) is a human pathogen and an emerging neuroteratogen. When the infection occurs during pregnancy, the virus can target and damage the fetal brain and retina. We examined the spectrum of clinical presentations, neuroimaging findings, and clinical outcomes of children wit...

journal_title：Annals of neurology

authors： Bonthius DJ,Wright R,Tseng B,Barton L,Marco E,Karacay B,Larsen PD

更新日期：2007-10-01 00:00:00

abstract：:The post-poliomyelitis syndrome (PPS) refers to symptoms of new weakness, fatigue, and pain years after recovery from acute poliomyelitis. Oligoclonal IgG bands have been reported in the cerebrospinal fluid (CSF) from PPS patients, suggesting that the syndrome is immune mediated or caused by persistent viral infection...

journal_title：Annals of neurology

authors： Salazar-Grueso EF,Grimaldi LM,Roos RP,Variakojis R,Jubelt B,Cashman NR

更新日期：1989-12-01 00:00:00

abstract：:We measured serially the blood pressure of 7 normal controls and 11 Type I insulin-dependent and 6 Type II non-insulin-dependent diabetic patients during sleep. All subjects underwent 2 or 3 nights of monitoring during which blood pressure was measured with an arteriosonde, a Doppler-type system with a cuff that autom...

journal_title：Annals of neurology

authors： Guilleminault C,Mondini S,Hayes B

更新日期：1985-12-01 00:00:00

abstract：:We recorded horizontal smooth-pursuit responses to sinusoidal and step-ramp stimuli in 7 patients with unilateral frontal lobe lesions. Five patients had directional smooth-pursuit deficits, all with impairment toward the side of cerebral damage. Ipsidirectional pursuit defects involved pursuit maintenance to sinusoid...

journal_title：Annals of neurology

authors： Morrow MJ,Sharpe JA

更新日期：1995-04-01 00:00:00

abstract：:Magnetic resonance imaging is a highly sensitive method for the detection of the lesions of multiple sclerosis and renders possible the study and the evolution of early lesions. Previous reports on magnetic resonance imaging following gadolinium-diethylenetriamine pentaacetic acid (Gd-DTPA) injection demonstrated that...

journal_title：Annals of neurology

authors： Katz D,Taubenberger JK,Cannella B,McFarlin DE,Raine CS,McFarland HF

更新日期：1993-11-01 00:00:00

abstract：:Human prion diseases can occur as an idiopathic disorder (sporadic Creutzfeldt-Jakob disease) or can be acquired, as is the case for variant Creutzfeldt-Jakob disease. These disorders are characterized by the accumulation of a protease-resistant form of the host-encoded prion protein termed PrP(Sc) in the brains of af...

journal_title：Annals of neurology

authors： Head MW,Bunn TJ,Bishop MT,McLoughlin V,Lowrie S,McKimmie CS,Williams MC,McCardle L,MacKenzie J,Knight R,Will RG,Ironside JW

更新日期：2004-06-01 00:00:00

abstract：OBJECTIVE:A study was undertaken to establish an enzyme-linked immunosorbent assay (ELISA) to detect JC virus (JCV)-specific antibodies in multiple sclerosis (MS) patients, and to evaluate its potential utility for identifying patients at higher or lower risk (ie, risk stratification) of developing progressive multifoc...

journal_title：Annals of neurology

authors： Gorelik L,Lerner M,Bixler S,Crossman M,Schlain B,Simon K,Pace A,Cheung A,Chen LL,Berman M,Zein F,Wilson E,Yednock T,Sandrock A,Goelz SE,Subramanyam M

更新日期：2010-09-01 00:00:00

abstract：:In diabetic nerves, the activation of the polyol pathway and a resulting decrease in Na(+)-K(+) ATPase activity lead to intra-axonal Na(+) accumulation and a smaller Na(+) gradient across the axolemma than normal. To investigate whether glycemic control is associated with acutely reversible changes in axonal excitabil...

journal_title：Annals of neurology

authors： Kitano Y,Kuwabara S,Misawa S,Ogawara K,Kanai K,Kikkawa Y,Yagui K,Hattori T

更新日期：2004-10-01 00:00:00

abstract：OBJECTIVE:We tested the premise that cholinesterase inhibitor therapy should target butyrylcholinesterase (BuChE) in Alzheimer's disease (AD), not acetylcholinesterase (AChE) alone, because both enzymes hydrolyze acetylcholine, and BuChE is increased in AD cerebral cortex. METHODS:To examine this issue in vivo, we qua...

journal_title：Annals of neurology

authors： Kuhl DE,Koeppe RA,Snyder SE,Minoshima S,Frey KA,Kilbourn MR

更新日期：2006-01-01 00:00:00

abstract：:Residual tumor cells remain beyond the margins of every glioblastoma (GBM) resection. Their resistance to postsurgical therapy is considered a major driving force of mortality, but their biology remains largely uncharacterized. In this study, residual tumor cells were derived via experimental biopsy of the resection m...

journal_title：Annals of neurology

authors： Glas M,Rath BH,Simon M,Reinartz R,Schramme A,Trageser D,Eisenreich R,Leinhaas A,Keller M,Schildhaus HU,Garbe S,Steinfarz B,Pietsch T,Steindler DA,Schramm J,Herrlinger U,Brüstle O,Scheffler B

更新日期：2010-08-01 00:00:00

abstract：:In CAG repeat diseases, affected neurons possess many cytoplasmic granules immunopositive for expanded polyglutamine stretches. Electron microscopic immunohistochemistry showed that the granules corresponded to lysosomes of primitive type. The results suggest that, in addition to the ubiquitin/proteasome pathway, muta...

journal_title：Annals of neurology

authors： Yamada M,Tsuji S,Takahashi H

更新日期：2002-10-01 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：: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

authors： Shiang R,Ryan SG,Zhu YZ,Fielder TJ,Allen RJ,Fryer A,Yamashita S,O'Connell P,Wasmuth JJ

更新日期：1995-07-01 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：:Ten patients with sporadic olivopontocerebellar atrophy and autonomic failure were studied with positron emission tomography. Subjects underwent both an [11C]diprenorphine and an [18F]fluorodopa scan. The mean caudate-occipital uptake ratio for [11C]diprenorphine was significantly reduced to 88% and the putamen-occipi...

journal_title：Annals of neurology

authors： Rinne JO,Burn DJ,Mathias CJ,Quinn NP,Marsden CD,Brooks DJ

更新日期：1995-05-01 00:00:00

abstract：OBJECTIVE:Metrics of diffusion tensor imaging (DTI) and magnetization transfer imaging (MTI) can detect diffuse axonal injury in traumatic brain injury (TBI). The relationship between the changes in these imaging measures and the underlying pathologies is still relatively unknown. This study investigated the radiologic...

journal_title：Annals of neurology

authors： Tu TW,Williams RA,Lescher JD,Jikaria N,Turtzo LC,Frank JA

更新日期：2016-06-01 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

authors： Chao CC,Hsueh HW,Kan HW,Liao CH,Jiang HH,Chiang H,Lin WM,Yeh TY,Lin YH,Cheng YY,Hsieh ST

更新日期：2019-04-01 00:00:00

abstract：OBJECTIVE:Prolonged human immunodeficiency virus-1 (HIV-1) infection leads to neurological debilitation, including motor dysfunction and frank dementia. Although pharmacological control of HIV infection is now possible, HIV-associated neurocognitive disorders (HAND) remain intractable. Here, we report that chronic trea...

journal_title：Annals of neurology

authors： Kang YJ,Digicaylioglu M,Russo R,Kaul M,Achim CL,Fletcher L,Masliah E,Lipton SA

更新日期：2010-09-01 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

authors： Wong M,Ess KC,Uhlmann EJ,Jansen LA,Li W,Crino PB,Mennerick S,Yamada KA,Gutmann DH

更新日期：2003-08-01 00:00:00

abstract：:Fourteen children with brain tumors received endocrine evaluations at least one year following completion of cranial irradiation. Treatment consisted of operation (13 patients), craniospinal irradiation (6), whole brain irradiation (5), posterior fossa irradiation (3), and chemotherapy (10). Endocrine evaluation inclu...

journal_title：Annals of neurology

authors： Duffner PK,Cohen ME,Anderson SW,Voorhess ML,MacGillivray MH,Panahon A,Brecher ML

更新日期：1983-11-01 00:00:00

abstract：:Detrusor hyperreflexia is a relevant clinical symptom for patients suffering from Parkinson's disease. In a series of 16 patients, we demonstrated that subthalamic deep brain stimulation has a significant and urodynamically recordable effect leading to a normalization of pathologically increased bladder sensibility. ...

journal_title：Annals of neurology

authors： Seif C,Herzog J,van der Horst C,Schrader B,Volkmann J,Deuschl G,Juenemann KP,Braun PM

更新日期：2004-01-01 00:00:00

abstract：OBJECTIVE:Multiple sclerosis (MS) is characterized by demyelination centered around cerebral veins. Recent studies suggested this topographic pattern may be caused by venous congestion, a condition termed chronic cerebrospinal venous insufficiency (CCSVI). Published sonographic criteria of CCSVI include reflux in the d...

journal_title：Annals of neurology

authors： Doepp F,Paul F,Valdueza JM,Schmierer K,Schreiber SJ

更新日期：2010-08-01 00:00:00

abstract：:A young man developed pathological thirst and hyperdipsia, hyperphagia, disordered temperature regulation, a lowered threshold for aggressive behavior, apathy, impaired memory, and seizures following encephalitis. He had marked hyponatremia. Bouts of water drinking produced water intoxication and precipitated status e...

journal_title：Annals of neurology

authors： Howe JG,Penney MD,Currie S,Morgan D

更新日期：1983-02-01 00:00:00

abstract：OBJECTIVE:Charcot-Marie-Tooth type 4J (CMT4J) is a rare autosomal recessive neuropathy caused by mutations in FIG4 that result in loss of FIG4 protein. This study investigates the natural history and mechanisms of segmental demyelination in CMT4J. METHODS:Over the past 9 years, we have enrolled and studied a cohort of...

journal_title：Annals of neurology

authors： Hu B,McCollum M,Ravi V,Arpag S,Moiseev D,Castoro R,Mobley B,Burnette B,Siskind C,Day J,Yawn R,Feely S,Li Y,Yan Q,Shy M,Li J

更新日期：2018-04-01 00:00:00

abstract：:Lead intoxication in rats reliably produces segmental demyelination. Following a single intravenous injection of radioactive lead, localization of tracer was observed sequentially by quantitative electron microscopical autoradiography. The animals injected had been on a lead-containing diet for 70 days; as a result, t...

journal_title：Annals of neurology

authors： Windebank AJ,Dyck PJ

更新日期：1985-08-01 00:00:00

abstract：OBJECTIVE:The full anticonvulsant effect of the ketogenic diet (KD) can require weeks to develop in rats, suggesting that altered gene expression is involved. The KD typically is used in pediatric epilepsies, but is effective also in adolescents and adults. Our goal was to use microarray and complementary technologies ...

journal_title：Annals of neurology

authors： Bough KJ,Wetherington J,Hassel B,Pare JF,Gawryluk JW,Greene JG,Shaw R,Smith Y,Geiger JD,Dingledine RJ

更新日期：2006-08-01 00:00:00