Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

abstract：:Two members of a family with a neuropathy resembling Charcot-Marie-Tooth disease were unable to relax their muscles after voluntary contraction. Muscle spasm often outlasted voluntary contraction by 30 seconds or more before subsiding into myokymia and fasciculations. The posture of the hand during muscle spasm resemb...

journal_title：Annals of neurology

authors： Lance JW,Burke D,Pollard J

更新日期：1979-06-01 00:00:00

abstract：OBJECTIVE:Episodic memory retrieval is reliant upon cognitive control systems, of which 2 have been identified with functional neuroimaging: a cingulo-opercular salience network (SN) and a frontoparietal executive network (EN). In Alzheimer's disease (AD), pathology is distributed throughout higher-order cortices. The ...

journal_title：Annals of neurology

authors： Dhanjal NS,Wise RJ

更新日期：2014-08-01 00:00:00

abstract：:This paper attempts to place into perspective the present state of clinical investigation with PET in neurology. To this end we briefly review the work of the neurology group of the MRC Cyclotron Unit at Hammersmith Hospital, by reference to studies performed in normal subjects and in patients with cerebrovascular dis...

journal_title：Annals of neurology

authors： Frackowiak RS,Wise RJ,Gibbs JM,Jones T

更新日期：1984-01-01 00:00:00

abstract：:We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation has been well described and clearly shown to cause recessive ALS. In this family, affected individuals are heterozygous for the D90A mutation and also carry a sin...

journal_title：Annals of neurology

authors： Hand CK,Mayeux-Portas V,Khoris J,Briolotti V,Clavelou P,Camu W,Rouleau GA

更新日期：2001-02-01 00:00:00

abstract：:It has been known for some time that patients with Parkinson's disease (PD) have difficulty executing simultaneous motor acts, yet the pathophysiology underlying this impairment remains uncertain. We examined the possibility that these dual-task deficits stem from defective sensorimotor mechanisms producing interferen...

journal_title：Annals of neurology

authors： Caligiuri MP,Heindel WC,Lohr JB

更新日期：1992-01-01 00:00:00

abstract：OBJECTIVE:We examined the sarcolemma of skeletal muscle from patients with facioscapulohumeral muscular dystrophy (FSHD1A) to learn if, as in other murine and human muscular dystrophies, its organization and relationship to nearby contractile structures are altered. METHODS:Unfixed biopsies of control and FSHD deltoid...

journal_title：Annals of neurology

authors： Reed P,Porter NC,Strong J,Pumplin DW,Corse AM,Luther PW,Flanigan KM,Bloch RJ

更新日期：2006-02-01 00:00:00

abstract：:Few studies evaluate neuropathological correlates of behavioral changes in Alzheimer disease (AD). We identified 31 autopsy patients with a diagnosis of definite AD. Behavioral changes were assessed with the Neuropsychiatric Inventory. Brain sections were collected from bilateral orbitofrontal and left anterior cingul...

journal_title：Annals of neurology

authors： Tekin S,Mega MS,Masterman DM,Chow T,Garakian J,Vinters HV,Cummings JL

更新日期：2001-03-01 00:00:00

abstract：OBJECTIVE:Transient high-frequency oscillations (HFOs; 150-600Hz) in local field potentials generated by human hippocampal and parahippocampal areas have been related to both physiological and pathological processes. The cellular basis and effects of normal and abnormal forms of HFOs have been controversial. This lack ...

journal_title：Annals of neurology

authors： Alvarado-Rojas C,Huberfeld G,Baulac M,Clemenceau S,Charpier S,Miles R,de la Prida LM,Le Van Quyen M

更新日期：2015-02-01 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:Chronic seizures in women can have adverse effects on reproductive function, such as polycystic ovarian syndrome, but it has been difficult to dissociate the effects of epilepsy from the role of antiepileptic drugs. To distinguish the effects of chronic seizures from medication, we used the laboratory rat, be...

journal_title：Annals of neurology

authors： Scharfman HE,Kim M,Hintz TM,MacLusky NJ

更新日期：2008-12-01 00:00:00

abstract：:Adult GM2 gangliosidosis is a rare disorder that often presents with both neurological and psychiatric syndromes. Effective treatment of the psychotic and affective symptoms associated with this disorder has been complicated by poor treatment response and the concern that many psychotropic agents may worsen the underl...

journal_title：Annals of neurology

authors： Renshaw PF,Stern TA,Welch C,Schouten R,Kolodny EH

更新日期：1992-03-01 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

abstract：:The need for novel, efficacious, antiseizure therapies is widely acknowledged. This study investigates in humans the feasibility, safety, and efficacy of high-frequency electrical stimulation (HFES; 100-500 Hz) triggered by automated seizure detections. Eight patients were enrolled in this study, which consisted of a ...

journal_title：Annals of neurology

authors： Osorio I,Frei MG,Sunderam S,Giftakis J,Bhavaraju NC,Schaffner SF,Wilkinson SB

更新日期：2005-02-01 00:00:00

abstract：:Protease-resistant prion protein, total prion protein, and glial fibrillary acidic protein were measured in various brain regions from 9 subjects with fatal familial insomnia. Six were homozygotes methionine/methionine at codon 129 (mean duration, 10.7 +/- 4 months) and 3 were heterozygotes methionine/valine (mean dur...

journal_title：Annals of neurology

authors： Parchi P,Castellani R,Cortelli P,Montagna P,Chen SG,Petersen RB,Manetto V,Vnencak-Jones CL,McLean MJ,Sheller JR

更新日期：1995-07-01 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：:The accuracy of a variety of finger and color confrontation tests in identifying chiasmal and optic nerve visual field defects was assessed in patients whose field defects had been established beforehand by a conventional achromatic kinetic technique on the Goldmann perimeter. Kinetic and static finger confrontation m...

journal_title：Annals of neurology

authors： Trobe JD,Acosta PC,Krischer JP,Trick GL

更新日期：1981-07-01 00:00:00

abstract：:A patient with generalized convulsions noted that seizures were reliably precipitated by mental arithmetic. The interictal electroencephalogram revealed only a mild, diffuse, nonspecific disturbance, but bursts of generalized epileptiform activity with no obvious clinical expression accompanied efforts at mental arith...

journal_title：Annals of neurology

authors： Wilkins AJ,Zifkin B,Andermann F,McGovern E

更新日期：1982-06-01 00:00:00

abstract：OBJECTIVE:The risk for symptomatic intracerebral hemorrhage (sICH) associated with thrombolytic treatment has not been evaluated in large studies using diffusion-weighted imaging (DWI). Here, we investigated the relation between pretreatment DWI lesion size and the risk for sICH after thrombolysis. METHODS:In this ret...

journal_title：Annals of neurology

authors： Singer OC,Humpich MC,Fiehler J,Albers GW,Lansberg MG,Kastrup A,Rovira A,Liebeskind DS,Gass A,Rosso C,Derex L,Kim JS,Neumann-Haefelin T,MR Stroke Study Group Investigators.

更新日期：2008-01-01 00:00:00

abstract：OBJECTIVE:Our goal was to define the genetic cause of the profound hypomyelination in the taiep rat model and determine its relevance to human white matter disease. METHODS:Based on previous localization of the taiep mutation to rat chromosome 9, we tested whether the mutation resided within the Tubb4a (β-tubulin 4A) ...

journal_title：Annals of neurology

authors： Duncan ID,Bugiani M,Radcliff AB,Moran JJ,Lopez-Anido C,Duong P,August BK,Wolf NI,van der Knaap MS,Svaren J

更新日期：2017-05-01 00:00:00

abstract：:Clinical seizure manifestations, physical examination, radiological studies, neuropsychological tests, and scalp and depth electroencephalographic (EEG) studies were done to localize seizure foci in 32 patients, 23 of whom have undergone surgery with more than one year of follow-up. Of 16 patients with unlocalized sca...

journal_title：Annals of neurology

authors： Spencer SS,Spencer DD,Williamson PD,Mattson RH

更新日期：1982-09-01 00:00:00

abstract：:Ganaxolone (3alpha-hydroxy-3beta-methyl-5alpha-pregnan-20-one) is a novel neurosteroid which has anticonvulsant properties in a number of seizure models as well as the ability to enhance function of the gamma-aminobutyric acid-A (GABA(A)) receptor complex via a neurosteroid binding site. The object of these experiment...

journal_title：Annals of neurology

authors： Snead OC 3rd

更新日期：1998-10-01 00:00:00

abstract：:Magnetic resonance imaging (MRI) provides a powerful tool for assessing disease activity in multiple sclerosis (MS), and its role as a surrogate marker for monitoring treatment efficacy is now becoming established. The most commonly used MRI parameters in treatment trials are (1) monthly gadolinium-enhanced MRI, with ...

journal_title：Annals of neurology

authors： Molyneux PD,Filippi M,Barkhof F,Gasperini C,Yousry TA,Truyen L,Lai HM,Rocca MA,Moseley IF,Miller DH

更新日期：1998-03-01 00:00:00

abstract：:The objective of this study was to assess which features of temporal lobe proton magnetic resonance spectroscopic imaging (1H-MRSI) are associated with satisfactory surgical outcome in patients with intractable temporal lobe epilepsy and bilateral hippocampal atrophy. We studied 21 patients with intractable temporal l...

journal_title：Annals of neurology

authors： Li LM,Cendes F,Antel SB,Andermann F,Serles W,Dubeau F,Olivier A,Arnold DL

更新日期：2000-02-01 00:00:00

abstract：:This study reports a case of type VII mucopolysaccharidosis (beta-glucuronidase deficiency) presenting as lethal hydrops fetalis. Skin fibroblast cultures established postmortem revealed deficient beta-glucuronidase activity. Mucopolysaccharides were stored in various cells of the brain, heart, kidney, liver, and sple...

journal_title：Annals of neurology

authors： Irani D,Kim HS,El-Hibri H,Dutton RV,Beaudet A,Armstrong D

更新日期：1983-10-01 00:00:00

abstract：OBJECTIVE:In multiple sclerosis (MS), cerebral gray matter (GM) atrophy correlates more strongly than white matter (WM) atrophy with disability. The corresponding relationships in the spinal cord (SC) are unknown due to technical limitations in assessing SC GM atrophy. Using phase-sensitive inversion recovery (PSIR) ma...

journal_title：Annals of neurology

authors： Schlaeger R,Papinutto N,Panara V,Bevan C,Lobach IV,Bucci M,Caverzasi E,Gelfand JM,Green AJ,Jordan KM,Stern WA,von Büdingen HC,Waubant E,Zhu AH,Goodin DS,Cree BA,Hauser SL,Henry RG

更新日期：2014-10-01 00:00:00

abstract：OBJECTIVE:A 12-month double-blind sham-surgery-controlled trial assessing adeno-associated virus type 2 (AAV2)-neurturin injected into the putamen bilaterally failed to meet its primary endpoint, but showed positive results for the primary endpoint in the subgroup of subjects followed for 18 months and for several seco...

journal_title：Annals of neurology

authors： Warren Olanow C,Bartus RT,Baumann TL,Factor S,Boulis N,Stacy M,Turner DA,Marks W,Larson P,Starr PA,Jankovic J,Simpson R,Watts R,Guthrie B,Poston K,Henderson JM,Stern M,Baltuch G,Goetz CG,Herzog C,Kordower JH,Alt

更新日期：2015-08-01 00:00:00

abstract：:Guillain-Barré syndrome (GBS) is an immune-mediated neuropathy, in which leukocytes and humoral components of the immune system proposedly initiate localized inflammation. An important pathogenic role for anti-GM1 ganglioside antibodies has been suggested. Therefore, we evaluated anti-GM1 IgG antibody-induced leukocyt...

journal_title：Annals of neurology

authors： van Sorge NM,van den Berg LH,Geleijns K,van Strijp JA,Jacobs BC,van Doorn PA,Wokke JH,van de Winkel JG,Leusen JH,van der Pol WL

更新日期：2003-05-01 00:00:00

abstract：:Recent reports showed many patients with chronic fatigue syndrome (CFS) harbor a retrovirus, xenotropic murine leukemia-related virus (XMRV), in blood; other studies could not replicate this finding. A useful next step would be to examine cerebrospinal fluid, because in some patients CFS is thought to be a brain disor...

journal_title：Annals of neurology

authors： Schutzer SE,Rounds MA,Natelson BH,Ecker DJ,Eshoo MW

更新日期：2011-04-01 00:00:00

abstract：OBJECTIVE:Intracellular amyloid β-protein (Aβ) contributes to neurodegeneration in Alzheimer disease (AD). Apomorphine (APO) is a dopamine receptor agonist for Parkinson disease and also protects against oxidative stress. Efficacy of APO for an AD mouse model and effects of APO on cell cultures are studied. METHODS:Th...

journal_title：Annals of neurology

authors： Himeno E,Ohyagi Y,Ma L,Nakamura N,Miyoshi K,Sakae N,Motomura K,Soejima N,Yamasaki R,Hashimoto T,Tabira T,LaFerla FM,Kira J

更新日期：2011-02-01 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