Absence of REM and altered NREM sleep in patients with spinocerebellar degeneration and slow saccades.

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：:Mitochondrial iron accumulation is thought to underlie the pathophysiology of Friedreich ataxia and may occur at the expense of cytosolic iron. Decreases in cytosolic iron induce expression of the transferrin receptor, some of which is released into the serum. Here, we demonstrate that serum transferrin receptor conce...

journal_title：Annals of neurology

authors： Wilson RB,Lynch DR,Farmer JM,Brooks DG,Fischbeck KH

更新日期：2000-05-01 00:00:00

abstract：:A recent controlled clinical trial suggested a role for amantadine as a treatment for pathological gambling in patients with Parkinson disease (PD). Analyzing data from a large cross-sectional study of impulse control disorders (ICDs) in PD, amantadine use (n = 728), vs no amantadine use (n = 2,357), was positively as...

journal_title：Annals of neurology

authors： Weintraub D,Sohr M,Potenza MN,Siderowf AD,Stacy M,Voon V,Whetteckey J,Wunderlich GR,Lang AE

更新日期：2010-12-01 00:00:00

abstract：:Benign familial neonatal convulsions (BFNC) is a rare dominantly inherited epileptic syndrome characterized by frequent brief seizures within the first days of life. The disease is caused by mutations in one of two recently identified voltage-gated potassium channel genes, KCNQ2 or KCNQ3. Here, we describe a four-gene...

journal_title：Annals of neurology

authors： Lerche H,Biervert C,Alekov AK,Schleithoff L,Lindner M,Klinger W,Bretschneider F,Mitrovic N,Jurkat-Rott K,Bode H,Lehmann-Horn F,Steinlein OK

更新日期：1999-09-01 00:00:00

abstract：:This study quantitatively explored the dendritic/spine extent of supragranular pyramidal neurons across several cortical areas in two adult male subjects who had undergone a callosotomy several decades before death. In all cortical areas, there were numerous atypical, supragranular pyramidal neurons with elongated "ta...

journal_title：Annals of neurology

authors： Jacobs B,Creswell J,Britt JP,Ford KL,Bogen JE,Zaidel E

更新日期：2003-07-01 00:00:00

abstract：OBJECTIVE:Though effective anti-human immunodeficiency virus (HIV) therapies are now available, they have variable penetration into the brain. We therefore aimed to assess changes over calendar time in the risk for HIV-associated dementia (HIV-D), and factors associated with HIV-D risk. METHODS:Using Concerted Action ...

journal_title：Annals of neurology

authors： Bhaskaran K,Mussini C,Antinori A,Walker AS,Dorrucci M,Sabin C,Phillips A,Porter K,CASCADE Collaboration.

更新日期：2008-02-01 00:00:00

abstract：OBJECTIVE:To define the magnitude and mechanism of the effect of brain infarcts on the odds of dementia in a prospective study. METHODS:We examined the effects of brain infarcts and Alzheimer's disease (AD) pathology on the risk for dementia in 179 subjects from the Baltimore Longitudinal Study of Aging Autopsy Progra...

journal_title：Annals of neurology

authors： Troncoso JC,Zonderman AB,Resnick SM,Crain B,Pletnikova O,O'Brien RJ

更新日期：2008-08-01 00:00:00

abstract：OBJECTIVE:Brain-computer interfaces (BCIs) could potentially be used to interact with pathological brain signals to intervene and ameliorate their effects in disease states. Here, we provide proof-of-principle of this approach by using a BCI to interpret pathological brain activity in patients with advanced Parkinson d...

journal_title：Annals of neurology

authors： Little S,Pogosyan A,Neal S,Zavala B,Zrinzo L,Hariz M,Foltynie T,Limousin P,Ashkan K,FitzGerald J,Green AL,Aziz TZ,Brown P

更新日期：2013-09-01 00:00:00

abstract：OBJECTIVE:A study was undertaken to describe the clinical spectrum, voltage-gated potassium channel (VGKC) complex antibody specificities, and central nervous system localization of antibody binding in 29 patients diagnosed with Morvan syndrome (MoS). METHODS:Clinical data were collected using questionnaires. Radioimm...

journal_title：Annals of neurology

authors： Irani SR,Pettingill P,Kleopa KA,Schiza N,Waters P,Mazia C,Zuliani L,Watanabe O,Lang B,Buckley C,Vincent A

更新日期：2012-08-01 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：:Although the basal ganglia have been implicated in the development of movement disorders since the 1940s, the exact role played by these structures has remained elusive. The development of the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-monkey model of parkinsonism, and the recent resurgence of surgical therapy for t...

journal_title：Annals of neurology

authors： Vitek JL,Giroux M

更新日期：2000-04-01 00:00:00

abstract：:We performed magnetic resonance imaging and magnetic resonance spectroscopic imaging on 28 patients with multiple sclerosis stratified for disability and clinical course (relapsing with at least partial remissions or secondary progressive disease). Lesions were segmented on the conventional proton density and T2-weigh...

journal_title：Annals of neurology

authors： Narayanan S,Fu L,Pioro E,De Stefano N,Collins DL,Francis GS,Antel JP,Matthews PM,Arnold DL

更新日期：1997-03-01 00:00:00

abstract：OBJECTIVE:The UCHL-1 gene is widely cited as a susceptibility factor for sporadic Parkinson's disease (PD). The strongest evidence comes from a meta-analysis of small studies that reported the S18Y polymorphism as protective against PD, after pooling studies of white and Asian subjects. Here, we present data that chall...

journal_title：Annals of neurology

authors： Healy DG,Abou-Sleiman PM,Casas JP,Ahmadi KR,Lynch T,Gandhi S,Muqit MM,Foltynie T,Barker R,Bhatia KP,Quinn NP,Lees AJ,Gibson JM,Holton JL,Revesz T,Goldstein DB,Wood NW

更新日期：2006-04-01 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：:Unverricht-Lundborg disease is a clinically recognizable form of progressive myoclonus epilepsy. Recently, in several families of both Finnish and Mediterranean extraction segregating Unverricht-Lundborg disease, the gene for this disease was linked to the same region of the long arm of chromosome 21. We performed lin...

journal_title：Annals of neurology

authors： Cochius JI,Figlewicz DA,Kälviäinen R,Nousiainen U,Farrell K,Patry G,Söderfeldt B,Frydman M,Lerman P,Andermann F

更新日期：1993-11-01 00:00:00

abstract：:Multiple sclerosis (MS) is the most common idiopathic inflammatory disease of the central nervous system. The distinction between MS and other benign or fulminant inflammatory demyelinating disorders is based on quantitative, rather than qualitative, differences in chronicity and severity. Primary progressive MS may d...

journal_title：Annals of neurology

authors： Weinshenker BG

更新日期：1994-01-01 00:00:00

abstract：OBJECTIVE:Amyotrophic lateral sclerosis/parkinsonism-dementia complex has been described in Guam, Western Papua, and the Kii Peninsula of Japan. The etiology and pathogenesis of this complex neurodegenerative disease remains enigmatic. METHODS:In this study, we have used targeted genomic sequencing to evaluate the con...

journal_title：Annals of neurology

authors： Steele JC,Guella I,Szu-Tu C,Lin MK,Thompson C,Evans DM,Sherman HE,Vilariño-Güell C,Gwinn K,Morris H,Dickson DW,Farrer MJ

更新日期：2015-03-01 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：:We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype-phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian...

journal_title：Annals of neurology

authors： Valente EM,Salvi S,Ialongo T,Marongiu R,Elia AE,Caputo V,Romito L,Albanese A,Dallapiccola B,Bentivoglio AR

更新日期：2004-09-01 00:00:00

abstract：:Human T-cell lymphotropic virus type III (HTLV-III) has been isolated from neural tissues and cerebrospinal fluid (CSF) of patients with neurological syndromes associated with the acquired immune deficiency syndrome (AIDS) and the virus may be directly involved in the pathogenesis of the syndromes. To detect HTLV-III ...

journal_title：Annals of neurology

authors： Gabuzda DH,Ho DD,de la Monte SM,Hirsch MS,Rota TR,Sobel RA

更新日期：1986-09-01 00:00:00

abstract：:Characteristic visual symptoms and signs in 12 patients with neoplasms or aneurysms involving the optic tract are summarized. Blurred vision was the most common initial manifestation. Optic atrophy became apparent in 7 of the 12 patients. Most patients had uniocular central scotomas with reduced visual acuity, and 2 h...

journal_title：Annals of neurology

authors： Bender MB,Bodis-Wollner I

更新日期：1978-03-01 00:00:00

abstract：:We describe the clinical and oculographic findings in 4 families with episodic ataxia and interictal nystagmus (EA-2) linked to chromosome 19p. Episodes varied from pure ataxia to combinations of symptoms suggesting involvement of the cerebellum, brainstem, and cortex. Some affected individuals exhibited a progressive...

journal_title：Annals of neurology

authors： Baloh RW,Yue Q,Furman JM,Nelson SF

更新日期：1997-01-01 00:00:00

abstract：OBJECTIVE:Multiple Sclerosis (MS) is an inflammatory demyelinating disease of the human central nervous system. Although the clinical impact of gray matter pathology in MS brains is unknown, 30 to 40% of MS patients demonstrate memory impairment. The molecular basis of this memory dysfunction has not yet been investiga...

journal_title：Annals of neurology

authors： Dutta R,Chang A,Doud MK,Kidd GJ,Ribaudo MV,Young EA,Fox RJ,Staugaitis SM,Trapp BD

更新日期：2011-03-01 00:00:00

abstract：:We recently reported that systemic administration of a proteasome inhibitor induced a progressive levodopa-responsive, bradykinetic syndrome in rats with imaging, pathological, and biochemical features that strikingly resemble what is found in PD. This model has the potential to be a useful tool for studying the mecha...

journal_title：Annals of neurology

authors： McNaught KS,Olanow CW

更新日期：2006-08-01 00:00:00

abstract：:Patients with the acquired immunodeficiency syndrome (AIDS) commonly display evidence of gross cerebral atrophy, but its true incidence and pathophysiology in the general AIDS population are unknown. In this study, we measured cerebrospinal fluid (CSF) spaces in 64 consecutively autopsied patients with AIDS, compared ...

journal_title：Annals of neurology

authors： Gelman BB,Guinto FC Jr

更新日期：1992-07-01 00:00:00

abstract：OBJECTIVE:To develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2). METHODS:In a discovery cohort, we used microarrays to perform global analysis of alternative splicing in DM1 and DM2. The newly identified splicing changes were combined with p...

journal_title：Annals of neurology

authors： Nakamori M,Sobczak K,Puwanant A,Welle S,Eichinger K,Pandya S,Dekdebrun J,Heatwole CR,McDermott MP,Chen T,Cline M,Tawil R,Osborne RJ,Wheeler TM,Swanson MS,Moxley RT 3rd,Thornton CA

更新日期：2013-12-01 00:00:00

abstract：:Analysis of mitochondrial DNA (mtDNA) in muscle and blood from 72 patients with mitochondrial myopathy showed that 30 had major deletions of a variable proportion of muscle mtDNA. All of these 30 patients presented with progressive external ophthalmoplegia and limb weakness, and 8 had the additional features of the Ke...

journal_title：Annals of neurology

authors： Holt IJ,Harding AE,Cooper JM,Schapira AH,Toscano A,Clark JB,Morgan-Hughes JA

更新日期：1989-12-01 00:00:00

abstract：:A patient is described who suffered a bilateral hemorrhagic infarction in the parasagittal cerebrum following neonatal asphyxia. This case confirms experimental results that show the parasagittal cerebrum is especially vulnerable to ischemic damage in newborns. ...

journal_title：Annals of neurology

authors： Pasternak JF

更新日期：1987-02-01 00:00:00

abstract：OBJECTIVE:Chronic demyelination can result in axonopathy and is associated with human neurological conditions such as multiple sclerosis (MS) in adults and cerebral palsy in infants. In these disorders, myelin regeneration is inhibited by impaired differentiation of oligodendrocyte progenitors into myelin-producing oli...

journal_title：Annals of neurology

authors： Fancy SP,Glasgow SM,Finley M,Rowitch DH,Deneen B

更新日期：2012-08-01 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