A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

abstract：OBJECTIVE:To evaluate the risk of relapses during pregnancy and in the first 3 months after delivery in 2 successive pregnancies in a cohort of French and Italian women with multiple sclerosis (MS). METHODS:A total of 93 women were included if they had had 2 pregnancies followed prospectively after MS onset between Ja...

journal_title：Neurology

authors： Benoit A,Durand-Dubief F,Amato MP,Portaccio E,Casey R,Roggerone S,Androdias G,Gignoux L,Ionescu I,Marrosu MG,Cocco E,Ghezzi A,Annovazzi P,Trojano M,Simone M,Marignier R,Confavreux C,Vukusic S

更新日期：2016-09-27 00:00:00

abstract：BACKGROUND:Because of the relatively poor results of frontal lobe epilepsy (FLE) surgery, identification of prognostic factors for surgical outcome is of great importance. METHODS:To identify predictive factors for FLE surgery, we analyzed the data of 61 patients (mean age at surgery 19.2) who had undergone presurgica...

journal_title：Neurology

authors： Janszky J,Jokeit H,Schulz R,Hoppe M,Ebner A

更新日期：2000-04-11 00:00:00

abstract：:Machado-Joseph disease is a dominantly inherited, multisystem, degenerative disorder that lacks a proven genetic marker. Peripheral nerve conduction-refractory period, sensory evoked potentials, and quantified oculomotor recordings were studied in nine patients affected with this disease to look for a potential physio...

journal_title：Neurology

authors： Hotson JR,Langston EB,Louis AA,Rosenberg RN

更新日期：1987-01-01 00:00:00

abstract：OBJECTIVES:Many patients with traumatic brain injury (TBI) report chronic fatigue, and previous studies showed a potential relationship between sleepiness and fatigue in these patients. Our study first looked at the impact of objective and subjective sleepiness on fatigue in patients with TBI. We then investigated how ...

journal_title：Neurology

authors： Chaumet G,Quera-Salva MA,Macleod A,Hartley S,Taillard J,Sagaspe P,Mazaux JM,Azouvi P,Joseph PA,Guilleminault C,Bioulac B,Léger D,Philip P

更新日期：2008-11-11 00:00:00

abstract：:Previous studies have suggested that an abnormal release of potassium from muscle may accompany attacks of paramyotonic weakness. We investigated 3 patients with paramyotonia congenita before and after the induction of forearm muscle weakness by exercise in cold water. Two of these patients had paralysis periodica par...

journal_title：Neurology

authors： Moxley RT 3rd,Ricker K,Kingston WJ,Böhlen R

更新日期：1989-07-01 00:00:00

abstract：OBJECTIVE:To investigate whether neuronal activity-regulated pentraxin (Narp) colocalizes with hypocretin (Hcrt or orexin) in the normal human brain and to determine if Narp staining is lost in the narcoleptic human brain. BACKGROUND:Human narcolepsy is characterized by a loss of the peptide hypocretin in the hypothal...

journal_title：Neurology

authors： Blouin AM,Thannickal TC,Worley PF,Baraban JM,Reti IM,Siegel JM

更新日期：2005-10-25 00:00:00

abstract：OBJECTIVE:To assess dyskinesia frequency in a population-based cohort of patients with Parkinson disease (PD). Dyskinesia complicates levodopa treatment and affects quality of life. METHODS:Utilizing the 1991-2010 population-based, parkinsonism-incident cohort of Olmsted County, MN (n = 669), accessed via the Rocheste...

journal_title：Neurology

authors： Turcano P,Mielke MM,Bower JH,Parisi JE,Cutsforth-Gregory JK,Ahlskog JE,Savica R

更新日期：2018-12-11 00:00:00

abstract：:We followed 18 multiple sclerosis patients clinically and with repeated brain MRIs with and without gadolinium for over 1 year. Clinical evaluations included scoring on the Kurtzke Expanded Disability Status Scale (EDSS) and the Ambulation Index (AI) scale. There was a significant correlation between the change in EDS...

journal_title：Neurology

authors： Khoury SJ,Guttmann CR,Orav EJ,Hohol MJ,Ahn SS,Hsu L,Kikinis R,Mackin GA,Jolesz FA,Weiner HL

更新日期：1994-11-01 00:00:00

abstract：OBJECTIVE:Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. METHOD:Herein, we describe 4 novel homozygous FA2H mutations in 4 nonconsanguineous families detected by whole-exome sequencing or a targeted gene panel analysis providing high coverage of all known hereditary spastic...

journal_title：Neurology

authors： Soehn AS,Rattay TW,Beck-Wödl S,Schäferhoff K,Monk D,Döbler-Neumann M,Hörtnagel K,Schlüter A,Ruiz M,Pujol A,Züchner S,Riess O,Schüle R,Bauer P,Schöls L

更新日期：2016-07-12 00:00:00

abstract：OBJECTIVE:To learn to which portions of a line normal subjects would attend when watching this line actually moving or when perceiving movement even in the absence of actual movement, an illusory movement. METHODS:Twenty normal subjects watched a computer monitor on which either lines or dots moved to the right or lef...

journal_title：Neurology

authors： Jeong Y,Lee BH,Ahn HJ,Park KC,Heilman KM,Na DL

更新日期：2004-04-27 00:00:00

abstract：OBJECTIVES:Functional neuroimaging has shown that the absence of externally observable signs of consciousness and cognition in severely brain-injured patients does not necessarily indicate the true absence of such abilities. However, relative to traumatic brain injury, nontraumatic injury is known to be associated with...

journal_title：Neurology

authors： Cruse D,Chennu S,Chatelle C,Fernández-Espejo D,Bekinschtein TA,Pickard JD,Laureys S,Owen AM

更新日期：2012-03-13 00:00:00

abstract：:We enrolled 11 patients with secondary progressive MS in a randomized single-masked cross-over study of plasma exchange (PE) in combination with azathioprine 2 mg/kg. PE was performed once a week for 4 weeks and thereafter every second week for 20 weeks (14 treatments). Eight patients completed the whole trial, and th...

journal_title：Neurology

authors： Sørensen PS,Wanscher B,Szpirt W,Jensen CV,Ravnborg M,Christiansen P,Schreiber K,Nordenbo A

更新日期：1996-06-01 00:00:00

abstract：OBJECTIVE:To characterize the nature and degree of cognitive morbidity in patients with chronic temporal lobe epilepsy compared with healthy control subjects, determine the association between the duration of epilepsy and cognitive morbidity, and ascertain whether there are factors that moderate the association between...

journal_title：Neurology

authors： Oyegbile TO,Dow C,Jones J,Bell B,Rutecki P,Sheth R,Seidenberg M,Hermann BP

更新日期：2004-05-25 00:00:00

abstract：:To determine the frequency of subjective sleep problems in spinocerebellar ataxia type 6 (SCA6), the authors surveyed 25 patients and 25 age-matched controls with the Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI). The ESS was higher in patients with SCA6 (9.12 +/- 5.80; CI: 2.28) than in con...

journal_title：Neurology

authors： Howell MJ,Mahowald MW,Gomez CM

更新日期：2006-05-09 00:00:00

abstract：OBJECTIVE:To determine, in a cross-sectional evaluation of nondemented individuals, if age-related memory decline is influenced by apolipoprotein E (apoE) genotype. BACKGROUND:The apoE-4 allele is an important risk factor for AD. PET in cognitively normal apoE-4 carriers (mean age, 56 years) shows reduced cerebral met...

journal_title：Neurology

authors： Caselli RJ,Graff-Radford NR,Reiman EM,Weaver A,Osborne D,Lucas J,Uecker A,Thibodeau SN

更新日期：1999-07-13 00:00:00

abstract：BACKGROUND:Over 50% of persons with idiopathic REM sleep behavior disorder (RBD) will develop Parkinson disease (PD) or dementia. At present, there is no way to predict who will develop disease. Since polysomnography is performed in all patients with idiopathic RBD at diagnosis, there is an opportunity to analyze if ba...

journal_title：Neurology

authors： Postuma RB,Gagnon JF,Rompré S,Montplaisir JY

更新日期：2010-01-19 00:00:00

abstract：:Study of diagnostic practice is necessary to optimize neurologists' clinical performance and ensure patient safety. To our knowledge, this report is the first set of systematic observations of diagnostic practices of community neurologists in their clinics. The study consisted of six 2-week periods of in situ observat...

journal_title：Neurology

authors： Dhand A,Engstrom J,Dhaliwal G

更新日期：2013-10-15 00:00:00

abstract：BACKGROUND:Previous studies have suggested a variety of factors that may be associated with the presence of hippocampal formation (HF) atrophy in patients with complex partial seizures (CPS), including a history of complex or prolonged febrile seizures (FS), age at seizure onset, and epilepsy duration. OBJECTIVE:To de...

journal_title：Neurology

authors： Theodore WH,Bhatia S,Hatta J,Fazilat S,DeCarli C,Bookheimer SY,Gaillard WD

更新日期：1999-01-01 00:00:00

abstract：:The authors found serum immunoglobulin M (IgM) autoantibody in a patient with typical acute cerebellar ataxia (ACA) and identified the antigen molecule as triosephosphate isomerase (TPI). TPI antigenicity to the patient's antibody was the highest in the cerebellar tissue. Eight of 23 patients with ACA had increased Ig...

journal_title：Neurology

authors： Uchibori A,Sakuta M,Kusunoki S,Chiba A

更新日期：2005-10-11 00:00:00

abstract：OBJECTIVE:To determine the association between hypertensive disorders of pregnancy (HDP) and cognitive impairment 15 years after pregnancy, we measured cognitive performance in 115 women with a history of HDP and in 481 women with a previous normotensive pregnancy. METHODS:This was a nested cohort study embedded in a ...

journal_title：Neurology

authors： Adank MC,Hussainali RF,Oosterveer LC,Ikram MA,Steegers EAP,Miller EC,Schalekamp-Timmermans S

更新日期：2021-02-02 00:00:00

abstract：:The one-and-a-half syndrome is a clinical disorder of extraocular movements characterized by a conjugate horizontal gaze palsy in one direction plus an internuclear ophthalmoplegia in the other. The syndrome is usually due to a single unilateral lesion of the paramedian pontine reticular formation or the abducens nucl...

journal_title：Neurology

authors： Wall M,Wray SH

更新日期：1983-08-01 00:00:00

abstract：:We performed a case-control study to investigate the role of recent infection as stroke risk factor and to identify pathogenetic pathways linking infection and stroke. We examined 166 consecutive patients with acute cerebrovascular ischemia and 166 patients hospitalized for nonvascular and noninflammatory neurologic d...

journal_title：Neurology

authors： Grau AJ,Buggle F,Becher H,Zimmermann E,Spiel M,Fent T,Maiwald M,Werle E,Zorn M,Hengel H,Hacke W

更新日期：1998-01-01 00:00:00

abstract：:Stuttering is an action-induced speech disorder with involuntary, audible, or silent repetitions or prolongations in the utterance of short speech elements (sounds, syllables) and words. Symptomatic treatment programs frequently have initial success; persistent benefit is variable and many patients remain disabled. St...

journal_title：Neurology

authors： Brin MF,Stewart C,Blitzer A,Diamond B

更新日期：1994-12-01 00:00:00

abstract：:This nested case-control study assessed the putative protective effect of human herpesvirus-8 (HHV-8) against HIV-1-related dementia (dementia). The HHV-8 seropositivity of 210 male age- and HIV disease stage-matched cases and controls was compared. The overall HHV-8 seropositivity of 66% was similar among demented HI...

journal_title：Neurology

authors： Polk S,Muñoz A,Sacktor NC,Jenkins FJ,Cohen B,Miller EN,Jacobson LP

更新日期：2002-09-24 00:00:00

abstract：OBJECTIVE:To compare the effects of carbamazepine and lamotrigine monotherapy for people with partial onset seizures or generalized onset tonic-clonic seizures. METHODS:A systematic review and meta-analysis using data on individual patients from randomized trials comparing lamotrigine with carbamazepine monotherapy. T...

journal_title：Neurology

authors： Gamble C,Williamson PR,Chadwick DW,Marson AG

更新日期：2006-05-09 00:00:00

abstract：OBJECTIVE:To evaluate the integrity of the dorsal striatal dopaminergic innervation in rigid and choreic Huntington disease (HD). BACKGROUND:Some patients with HD have an akinetic-rigid phenotype. It has been suggested that nigrostriatal in addition to striatal pathology is present in this subgroup. The authors sought...

journal_title：Neurology

authors： Bohnen NI,Koeppe RA,Meyer P,Ficaro E,Wernette K,Kilbourn MR,Kuhl DE,Frey KA,Albin RL

更新日期：2000-05-09 00:00:00

abstract：BACKGROUND:Tricyclic antidepressants (TCA) are often used in the treatment of painful polyneuropathy. Venlafaxine is a serotonin and weak noradrenaline reuptake inhibitor antidepressant with a different profile of other pharmacologic actions from those of TCA. OBJECTIVE:To test if venlafaxine would relieve painful pol...

journal_title：Neurology

authors： Sindrup SH,Bach FW,Madsen C,Gram LF,Jensen TS

更新日期：2003-04-22 00:00:00

abstract：OBJECTIVE:To evaluate the clinical efficacy of a standardized special root extract from the plant Petasites hybridus as a preventive therapy for migraine. METHODS:This is a three-arm, parallel-group, randomized trial comparing Petasites extract 75 mg bid, Petasites extract 50 mg bid, or placebo bid in 245 patients wit...

journal_title：Neurology

authors： Lipton RB,Göbel H,Einhäupl KM,Wilks K,Mauskop A

更新日期：2004-12-28 00:00:00

abstract：OBJECTIVE:To examine the relation of nonsteroidal anti-inflammatory drugs (NSAIDs) to incident Alzheimer disease (AD), change in cognition, and AD pathology. METHODS:Participants were 1,019 older Catholic clergy followed up annually for up to 12 years (mean baseline age = 75.0 years, education = 18.1 years, Mini-Menta...

journal_title：Neurology

authors： Arvanitakis Z,Grodstein F,Bienias JL,Schneider JA,Wilson RS,Kelly JF,Evans DA,Bennett DA

更新日期：2008-06-03 00:00:00

abstract：OBJECTIVE:To assess efficacy and safety of once-daily 8 or 12 mg perampanel, a noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) receptor antagonist, when added to concomitant antiepileptic drugs (AEDs) in the treatment of drug-resistant partial-onset seizures. METHODS:This was a multicenter,...

journal_title：Neurology

authors： French JA,Krauss GL,Biton V,Squillacote D,Yang H,Laurenza A,Kumar D,Rogawski MA

更新日期：2012-08-07 00:00:00