Neuropsychological features of familial Alzheimer's disease.

abstract：:A prospective study was made of changes in the electroencephalogram after the use of metrizamide for myelography and posterior fossa cisternography in 61 patients (62 studies). The EEG changed in 21 patients (34%); 3 of these had had previously abnormal records, and the abnormalities were accentuated on the second rec...

journal_title：Annals of neurology

authors： Ropper AH,Chiappa KH,Young RR

更新日期：1979-09-01 00:00:00

abstract：OBJECTIVE:The Veterans Administration Cooperative Studies Program #468, a multicenter study that randomized Parkinson's disease (PD) patients to either subthalamic nucleus (STN) or globus pallidus internus (GPi) deep brain stimulation (DBS), found that stimulation at either target provided similar overall motoric benef...

journal_title：Annals of neurology

authors： Katz M,Luciano MS,Carlson K,Luo P,Marks WJ Jr,Larson PS,Starr PA,Follett KA,Weaver FM,Stern MB,Reda DJ,Ostrem JL,CSP 468 study group.

更新日期：2015-04-01 00:00:00

abstract：:A comprehensive analysis of cerebral hemodynamics and metabolism was carried out in 14 patients with pseudotumor cerebri. Tracer techniques were employed to measure cerebral blood flow (CBF) and vascular reactivity to acute changes in arterial carbon dioxide tension and blood pressure, cerebral blood volume (CBV), and...

journal_title：Annals of neurology

authors： Raichle ME,Grubb RL Jr,Phelps ME,Gado MH,Caronna JJ

更新日期：1978-08-01 00:00:00

abstract：:We used spin-echo magnetic resonance imaging and proton magnetic resonance spectroscopic imaging in 8 patients with probable Alzheimer's disease and in 10 age-matched elderly control subjects to assess the effects of Alzheimer's disease on the brain. On magnetic resonance images the patients showed significant ventric...

journal_title：Annals of neurology

authors： Meyerhoff DJ,MacKay S,Constans JM,Norman D,Van Dyke C,Fein G,Weiner MW

更新日期：1994-07-01 00:00:00

abstract：:In 9 patients with progressive supranuclear palsy and in 27 controls, dopamine and homovanillic acid concentrations, choline acetyltransferase (CAT) activity, and the number of [3H]spiperone and [3H]quinuclidinyl benzilate binding sites were measured post mortem in the striatum (caudate nucleus, putamen, and nucleus a...

journal_title：Annals of neurology

authors： Ruberg M,Javoy-Agid F,Hirsch E,Scatton B,LHeureux R,Hauw JJ,Duyckaerts C,Gray F,Morel-Maroger A,Rascol A

更新日期：1985-11-01 00:00:00

abstract：:Mutations of the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause autosomal recessive Charcot-Marie-Tooth disease type 4A. We report four additional families with recessive mutations (487C-->T, Q163X; 359G-->A, R120Q) of GDAP1; Q163X occurred in three unrelated Hispanic families that had the...

journal_title：Annals of neurology

authors： Boerkoel CF,Takashima H,Nakagawa M,Izumo S,Armstrong D,Butler I,Mancias P,Papasozomenos SC,Stern LZ,Lupski JR

更新日期：2003-03-01 00:00:00

abstract：OBJECTIVE:Lacunar strokes are a leading cause of cognitive impairment and vascular dementia. However, adequate characterization of cognitive impairment is lacking. The aim of this study was to estimate the prevalence and characterize the neuropsychological impairment in lacunar stroke patients. METHODS:All English-spe...

journal_title：Annals of neurology

authors： Jacova C,Pearce LA,Costello R,McClure LA,Holliday SL,Hart RG,Benavente OR

更新日期：2012-09-01 00:00:00

abstract：:Patterns of brain dysgenesis that resemble those in the Zellweger syndrome were demonstrated in a boy with an isolated defect of the peroxisomal bifunctional enzyme. There was bilateral centrosylvian pachygyria and polymicrogyria, diffuse hemispheric hypomyelination with heterotopic neurons, Purkinje cell heterotopias...

journal_title：Annals of neurology

authors： Kaufmann WE,Theda C,Naidu S,Watkins PA,Moser AB,Moser HW

更新日期：1996-02-01 00:00:00

abstract：:We describe the cases of eight patients with chronic idiopathic anhidrosis. These patients were heat intolerant and became hot, flushed, dizzy, dyspneic, and weak but did not sweat when the ambient temperature was high or when they exercised. Four patients had preganglionic sudomotor lesions and in the remaining 4 the...

journal_title：Annals of neurology

authors： Low PA,Fealey RD,Sheps SG,Su WP,Trautmann JC,Kuntz NL

更新日期：1985-09-01 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:The Ts65Dn (Ts) mouse model of Down syndrome (DS) is exquisitely sensitive to an infantile spasms phenotype induced by γ-aminobutyric acidB receptor (GABAB R) agonists. The Ts mouse contains the core genomic triplication of the DS critical region, which includes 3 copies of the Kcnj6 gene that encodes the GAB...

journal_title：Annals of neurology

authors： Joshi K,Shen L,Michaeli A,Salter M,Thibault-Messier G,Hashmi S,Eubanks JH,Cortez MA,Snead OC

更新日期：2016-10-01 00:00:00

abstract：:We studied 23 patients with clinically defined mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), 25 oligosymptomatic or asymptomatic maternal relatives, and 50 mitochondrial disease control subjects for the presence of a previously reported heteroplasmic point mutation at nt 3,243 in ...

journal_title：Annals of neurology

authors： Ciafaloni E,Ricci E,Shanske S,Moraes CT,Silvestri G,Hirano M,Simonetti S,Angelini C,Donati MA,Garcia C

更新日期：1992-04-01 00:00:00

abstract：OBJECTIVE:Deletions of CACNA1A, encoding the α1 subunit of CaV 2.1 channels, cause epilepsy with ataxia in humans. Whereas the deletion of Cacna1a in γ-aminobutyric acidergic (GABAergic) interneurons (INs) derived from the medial ganglionic eminence (MGE) impairs cortical inhibition and causes generalized seizures in N...

journal_title：Annals of neurology

authors： Jiang X,Lupien-Meilleur A,Tazerart S,Lachance M,Samarova E,Araya R,Lacaille JC,Rossignol E

更新日期：2018-09-01 00:00:00

abstract：:Ocular flutter is a rare horizontal eye movement disorder characterized by rapid saccadic oscillations. It has been hypothesized that it is caused by loss of "pause" neuronal inhibition of "burst" neuron function in the paramedian pontine reticular formation (PPRF); however, there have been no imaging studies confirmi...

journal_title：Annals of neurology

authors： Schon F,Hodgson TL,Mort D,Kennard C

更新日期：2001-09-01 00:00:00

abstract：:This study assessed whether or not levodopa induces dyskinesias in normal (ie, unlesioned) squirrel monkeys. All six animals treated twice daily with levodopa (15 mg/kg with carbidopa by oral gavage) for two weeks developed choreoathetoid dyskinesias, whereas none of the vehicle-treated animals displayed any abnormal ...

journal_title：Annals of neurology

authors： Togasaki DM,Tan L,Protell P,Di Monte DA,Quik M,Langston JW

更新日期：2001-08-01 00:00:00

abstract：OBJECTIVE:Both animal and human data suggest that noradrenergic stimulation may enhance motor performance after brain damage. We conducted a placebo-controlled, double-blind and crossover design study to investigate the effects of noradrenergic stimulation on the cortical motor system in hemiparetic stroke patients. M...

journal_title：Annals of neurology

authors： Wang LE,Fink GR,Diekhoff S,Rehme AK,Eickhoff SB,Grefkes C

更新日期：2011-02-01 00:00:00

abstract：:Subcutaneous application of interferon-beta1b (IFN-beta1b) is an established therapy for patients with relapsing-remitting multiple sclerosis (RRMS), but early side effects are still a major concern. In vitro studies with myelin basic protein (MBP)-specific T-cell lines revealed a synergistic suppressive effect of IFN...

journal_title：Annals of neurology

authors： Weber F,Polak T,Günther A,Kubuschok B,Janovskaja J,Bitsch A,Poser S,Rieckmann P

更新日期：1998-07-01 00:00:00

abstract：:Infantile spasms are generalized seizures specific to early infancy, and are believed to result from complex cortical-subcortical interactions during a critical period of development. We used positron emission tomography (PET) to determine local cerebral metabolic rates for glucose (1CMRG1c) in 44 infants with spasms,...

journal_title：Annals of neurology

authors： Chugani HT,Shewmon DA,Sankar R,Chen BC,Phelps ME

更新日期：1992-02-01 00:00:00

abstract：OBJECTIVE:Autosomal-dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy characterized by auditory symptoms. Two genes, LGI1 and RELN, encoding secreted proteins, are implicated in the etiology of ADLTE, but half of the affected families remain genetically unsolved, and the underlying molecular mechan...

journal_title：Annals of neurology

authors： Dazzo E,Rehberg K,Michelucci R,Passarelli D,Boniver C,Vianello Dri V,Striano P,Striano S,Pasterkamp RJ,Nobile C

更新日期：2018-03-01 00:00:00

abstract：:For unknown reasons, placebos reduce seizures in clinical trials in many patients. It is also unclear why some drugs showing statistical superiority to placebo in one trial may fail to do so in another. Using Seizuretracker.com, a patient-centered database of 684,825 seizures, we simulated "placebo" and "drug" trials....

journal_title：Annals of neurology

authors： Goldenholz DM,Moss R,Scott J,Auh S,Theodore WH

更新日期：2015-09-01 00:00:00

abstract：:We prospectively recruited 10 patients who presented with urinary retention as a neurological deficit that was attributable to lateral medullary infarction. Of these, 9 patients underwent a urodynamic study, which demonstrated detrusor underactivity of the bladder in 7 patients. Urinary retention developed mainly when...

journal_title：Annals of neurology

authors： Cho HJ,Kang TH,Chang JH,Choi YR,Park MG,Choi KD,Sung SM,Park KP,Jung DS

更新日期：2015-04-01 00:00:00

abstract：:Advances in neuroimaging techniques, particularly high-resolution magnetic resonance imaging (MRI), have proved invaluable in identifying structural brain lesions in patients with epilepsy. The assumption that such focal lesions invariably predict the site of seizure origin may not be correct, however. We report a ser...

journal_title：Annals of neurology

authors： Holmes MD,Wilensky AJ,Ojemann GA,Ojemann LM

更新日期：1999-04-01 00:00:00

abstract：:The serum and cerebrospinal fluid (CSF) of 8 women with ataxia, 6 of whom also had eye movement abnormalities believed to be opsoclonus, were found to contain a highly specific antineuronal antibody we call anti-Ri. Seven of the 8 women also had or developed cancer: carcinoma of the breast in 5, adenocarcinoma in an a...

journal_title：Annals of neurology

authors： Luque FA,Furneaux HM,Ferziger R,Rosenblum MK,Wray SH,Schold SC Jr,Glantz MJ,Jaeckle KA,Biran H,Lesser M

更新日期：1991-03-01 00:00:00

abstract：:The cause of the selective degeneration of motor neurons in amyotrophic lateral sclerosis (ALS) remains unexplained. One potential pathogenetic mechanism is chronic toxicity due to disturbances of the glutamatergic neurotransmitter system, mediated via alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA)-s...

journal_title：Annals of neurology

authors： Williams TL,Day NC,Ince PG,Kamboj RK,Shaw PJ

更新日期：1997-08-01 00:00:00

abstract：:Intraneural perineuriomas are benign peripheral nerve sheath tumors that cause progressive debilitating focal extremity weakness. The etiology of perineuriomas is largely unknown. We utilized whole exome sequencing, copy number algorithm evaluation, and high-resolution whole genome microarray to investigate for a gene...

journal_title：Annals of neurology

authors： Klein CJ,Wu Y,Jentoft ME,Mer G,Spinner RJ,Dyck PJ,Dyck PJ,Mauermann ML

更新日期：2017-02-01 00:00:00

abstract：:An inverse relationship between the cerebrospinal fluid (CSF) opening pressure and the corresponding protein value was found for patients with idiopathic pseudotumor cerebri who underwent their first lumbar puncture (LP) prior to the initiation of therapy. This relationship provides evidence for a pressure-dependent b...

journal_title：Annals of neurology

authors： Chandra V,Bellur SN,Anderson RJ

更新日期：1986-01-01 00:00:00

abstract：:To evaluate reports of abnormal levels of free amino acids (AA) in patients with amyotrophic lateral sclerosis (ALS), we studied serum, cerebrospinal fluid, and urine AA in 12 patients with ALS and 12 controls matched for age, sex, and severity of disability. ALS patients had statistically significant elevations in se...

journal_title：Annals of neurology

authors： Patten BM,Harati Y,Acosta L,Jung SS,Felmus MT

更新日期：1978-04-01 00:00:00

abstract：:We here report the second and third mutations in alphaB-crystallin causing myofibrillar myopathy. Two patients had adult-onset muscle weakness. Patient 1 had cervical, limb girdle, and respiratory muscle weakness and died of respiratory failure. Patient 2 had proximal and distal leg muscle weakness. Both had myopathic...

journal_title：Annals of neurology

authors： Selcen D,Engel AG

更新日期：2003-12-01 00:00:00

abstract：OBJECTIVE:To examine changes in the response properties of meningeal nociceptors that might lead to migraine pain and examine endogenous processes that could play a role in mediating them using a clinically relevant model of migraine triggering, namely infusion of the nitric oxide (NO) donor nitroglycerin (NTG). METHO...

journal_title：Annals of neurology

authors： Zhang X,Kainz V,Zhao J,Strassman AM,Levy D

更新日期：2013-06-01 00:00:00

abstract：:Ubiquitin ligases regulate quantities and activities of target proteins, often pleiotropically. The malin ubiquitin E3 ligase is reported to regulate autophagy, the misfolded protein response, microRNA silencing, Wnt signaling, neuronatin-mediated endoplasmic reticulum stress, and the laforin glycogen phosphatase. Mal...

journal_title：Annals of neurology

authors： Turnbull J,Epp JR,Goldsmith D,Zhao X,Pencea N,Wang P,Frankland PW,Ackerley CA,Minassian BA

更新日期：2014-03-01 00:00:00