Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

abstract：OBJECTIVE:To assess the effect of usage of three different versions of Creutzfeldt-Jakob disease (CJD) diagnostic criteria on estimates of CJD incidence. METHODS:A total of 428 patients referred for suspected sporadic CJD between 1991 and 1997 were classified according to different criteria to be compared after analys...

journal_title：Neurology

authors： Brandel JP,Delasnerie-Lauprêtre N,Laplanche JL,Hauw JJ,Alpérovitch A

更新日期：2000-03-14 00:00:00

abstract：:Wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such...

journal_title：Neurology

authors： Rando TA,Horton JC,Layzer RB

更新日期：1992-06-01 00:00:00

abstract：:After superficial temporal artery-middle cerebral artery bypass, cerebral blood flow (CBF) in the operated hemisphere increased in 6 of 17 patients. Preoperatively, the symptomatic hemisphere showed lower CBF in all six, lower oxygen metabolism in five, higher blood volume in four, and higher oxygen extraction in two....

journal_title：Neurology

authors： Powers WJ,Martin WR,Herscovitch P,Raichle ME,Grubb RL Jr

更新日期：1984-09-01 00:00:00

abstract：:Plasma exchange (PE) was shown in a previous double-blind randomized controlled study to confer significant additional benefit at 1 year upon patients with chronic progressive multiple sclerosis (CPMS) treated with immunosuppressive drug therapy (ISDT). Efficacy over an extended term, indications for retreatment, and ...

journal_title：Neurology

authors： Khatri BO,McQuillen MP,Hoffmann RG,Harrington GJ,Schmoll D

更新日期：1991-03-01 00:00:00

abstract：:Cerebral necrosis following stroke exposes brain antigens to the immune system, potentially initiating an antibody response. The authors measured levels of antibodies to specific neuronal antigens, neurofilaments (NF), and a ubiquitous antigen, cardiolipin (CL), in 45 patients following an acute first-ever stroke, wit...

journal_title：Neurology

authors： Bornstein NM,Aronovich B,Korczyn AD,Shavit S,Michaelson DM,Chapman J

更新日期：2001-02-27 00:00:00

abstract：OBJECTIVES:Although small fiber neuropathy (SFN) often occurs without apparent cause, the molecular etiology of idiopathic SFN (I-SFN) has remained enigmatic. Sodium channel Na(v)1.7 is preferentially expressed within dorsal root ganglion (DRG) and sympathetic ganglion neurons and their small-diameter peripheral axons....

journal_title：Neurology

authors： Han C,Hoeijmakers JG,Ahn HS,Zhao P,Shah P,Lauria G,Gerrits MM,te Morsche RH,Dib-Hajj SD,Drenth JP,Faber CG,Merkies IS,Waxman SG

更新日期：2012-05-22 00:00:00

abstract：OBJECTIVE:Dominant, left anteromedial temporal lobe resection (AMTLR) for seizure control carries risks to verbal episodic memory and visual object naming. Consistent with traditional thinking, verbal memory decline is considered a consequence of hippocampal removal and naming decline has been attributed to lateral tem...

journal_title：Neurology

authors： Hamberger MJ,Seidel WT,McKhann GM 2nd,Goodman RR

更新日期：2010-05-11 00:00:00

abstract：OBJECTIVE:To characterize a large family with X-linked Charcot-Marie-Tooth (CMT) neuropathy without mutations in the gap junction protein B1 (GJB1) gene, which has an unusual phenotype that is different in some aspects from classic CMTX1. METHODS:We tested CMT families consistent with X-linked inheritance for GJB1 mut...

journal_title：Neurology

authors： Huttner IG,Kennerson ML,Reddel SW,Radovanovic D,Nicholson GA

更新日期：2006-12-12 00:00:00

abstract：:Zinc is essential for normal embryogenesis and may have particular importance for closure of the human neural tube. Compared to 258 controls, we found increased zinc content in umbilical cord serum in eight of nine newborn anencephalics (p less than 0.02) and three infants with spina bifida (p less than 0.001). Increa...

journal_title：Neurology

authors： Zimmerman AW

更新日期：1984-04-01 00:00:00

abstract：OBJECTIVE:To detect and quantify lesions of the small-caliber sural nerve (SN) in symptomatic and asymptomatic transthyretin familial amyloid polyneuropathy (TTR-FAP) by high-resolution magnetic resonance neurography (MRN) in correlation with electrophysiologic and histopathologic findings. METHODS:Twenty-five patient...

journal_title：Neurology

authors： Kollmer J,Sahm F,Hegenbart U,Purrucker JC,Kimmich C,Schönland SO,Hund E,Heiland S,Hayes JM,Kristen AV,Röcken C,Pham M,Bendszus M,Weiler M

更新日期：2017-08-01 00:00:00

abstract：BACKGROUND:Semiology is very useful in the diagnosis and classification of seizures. Some clinical signs occur primarily with specific localization-related epilepsies. OBJECTIVE:To evaluate postictal nose-rubbing as a potential diagnostic sign and a potential lateralizing or localizing indicator. METHODS:We reviewed ...

journal_title：Neurology

authors： Geyer JD,Payne TA,Faught E,Drury I

更新日期：1999-03-10 00:00:00

abstract：:Estrogen have been reported in animal studies to both enhance and block central dopaminergic activity and in one clinical report to improve tardive dyskinesia. In the present study estrogen (Premarin, 2.5 mg per day) administration caused varying degrees of improvement in less than one-third of 21 patients with chorea...

journal_title：Neurology

authors： Koller WC,Barr A,Biary N

更新日期：1982-05-01 00:00:00

abstract：OBJECTIVE:To evaluate interictal, circulating sphingolipids in women migraineurs. METHODS:In the fasting state, serum samples were obtained pain-free from 88 women with episodic migraine (EM; n=52) and from controls (n=36). Sphingolipids were detected and quantified by high-performance liquid chromatography coupled wi...

journal_title：Neurology

authors： Peterlin BL,Mielke MM,Dickens AM,Chatterjee S,Dash P,Alexander G,Vieira RV,Bandaru VV,Dorskind JM,Tietjen GE,Haughey NH

更新日期：2015-10-06 00:00:00

abstract：OBJECTIVE:To evaluate the impact of early blood pressure (BP) changes on diffusion-weighted imaging (DWI) lesion evolution and clinical outcome in patients with stroke treated with IV tissue plasminogen activator (tPA). METHODS:We prospectively evaluated 80 patients with stroke with a documented middle cerebral artery...

journal_title：Neurology

authors： Delgado-Mederos R,Ribo M,Rovira A,Rubiera M,Munuera J,Santamarina E,Delgado P,Maisterra O,Alvarez-Sabin J,Molina CA

更新日期：2008-08-19 00:00:00

abstract：:We describe the MR images of a patient with juvenile ALS. MRI of the brain showed bilateral hyperintensities along the corticospinal tracts extending from the corona radiata to the brainstem on T2-weighted images. These findings should be differentiated from the slight hyperintensities seen in the posterior limbs of t...

journal_title：Neurology

authors： Midani H,Truwit CL,Parry GJ

更新日期：1998-06-01 00:00:00

abstract：OBJECTIVE:To determine the surgical outcome and factors of predictive value in patients undergoing reoperation for intractable partial epilepsy. METHODS:The authors retrospectively studied the operative outcome in 64 consecutive patients who underwent reoperation for intractable partial epilepsy. Demographic data, res...

journal_title：Neurology

authors： Siegel AM,Cascino GD,Meyer FB,McClelland RL,So EL,Marsh WR,Scheithauer BW,Sharbrough FW

更新日期：2004-12-28 00:00:00

abstract：OBJECTIVE:To investigate residual function of the motor cortex corresponding to the hand of the amputated arm (MCamp). METHODS:Focal transcranial magnetic stimulation (TMS) of MCamp was performed in 10 patients 22 to 52 years after arm amputation to inhibit tonic muscle contraction in the intact hand ipsilateral to co...

journal_title：Neurology

authors： Röricht S,Meyer BU

更新日期：2000-02-22 00:00:00

abstract：:In monkey extraocular muscles (EOM), a battery of histochemical reactions delineates three muscle fiber types, coarse, fine, and granular. Normal EOM are compared with EOM denervated by intracranial oculomotor nerve section. The experimentally denervated EOM fibers did not show the constellation of histologic response...

journal_title：Neurology

authors： Ringel SP,Engel WK,Bender AN,Peters ND,Yee RD

更新日期：1978-01-01 00:00:00

abstract：BACKGROUND:PD was associated with increased mortality before levodopa therapy became available. There have been conflicting reports of PD mortality in the modern era. OBJECTIVE:To assess current mortality rates in a large unselected population receiving treatment for parkinsonism (PKM) followed for up to 6 years. MET...

journal_title：Neurology

authors： Guttman M,Slaughter PM,Theriault ME,DeBoer DP,Naylor CD

更新日期：2001-12-26 00:00:00

abstract：OBJECTIVE:To investigate the relationship between temporal discrimination threshold (TDT) and "off" period gait freezing (OGF) in patients with fluctuating Parkinson disease (PD). METHODS:TDT values were measured at the dorsum of the toes in 11 control subjects and 22 patients with PD with a wearing-off phenomenon (16...

journal_title：Neurology

authors： Lee MS,Kim HS,Lyoo CH

更新日期：2005-02-22 00:00:00

abstract：OBJECTIVE:To describe neural autoantibody profiles and outcomes in patients with neurologic autoimmunity associated with immune checkpoint inhibitor (ICI) cancer immunotherapy. METHODS:In this retrospective descriptive study, 63 patients with ICI-related neurologic autoimmunity were included: 39 seen at the Mayo Clini...

journal_title：Neurology

authors： Sechi E,Markovic SN,McKeon A,Dubey D,Liewluck T,Lennon VA,Lopez-Chiriboga AS,Klein CJ,Mauermann M,Pittock SJ,Flanagan EP,Zekeridou A

更新日期：2020-10-27 00:00:00

abstract：:Proximal myotonic myopathy (PROMM) is an autosomal dominantly inherited multisystemic disorder characterized by myotonia, proximal muscle weakness, and cataracts. This disorder is not linked to the gene locus of myotonic dystrophy (DM). We describe three new families with PROMM. In all patients, CTG repeats of the DM ...

journal_title：Neurology

authors： Hund E,Jansen O,Koch MC,Ricker K,Fogel W,Niedermaier N,Otto M,Kuhn E,Meinck HM

更新日期：1997-01-01 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 describe two symptomatic dysferlin gene mutation carriers. METHODS:One patient had limb girdle weakness. His brother was diagnosed with limb girdle muscular dystrophy 2B with two mutations in the dysferlin gene (D625Y and E1734G). The second patient had distal weakness. He had two sons with Miyoshi myopat...

journal_title：Neurology

authors： Illa I,De Luna N,Domínguez-Perles R,Rojas-García R,Paradas C,Palmer J,Márquez C,Gallano P,Gallardo E

更新日期：2007-04-17 00:00:00

abstract：OBJECTIVE:Evidence of a relation between use of lipid lowering drugs and cognitive outcomes is mixed. This study aimed to test the association between use of statins and incidence of dementia and cognitive impairment without dementia (CIND) over 5 years of follow-up. METHODS:Data were from a population-based cohort st...

journal_title：Neurology

authors： Cramer C,Haan MN,Galea S,Langa KM,Kalbfleisch JD

更新日期：2008-07-29 00:00:00

abstract：OBJECTIVE:To investigate whether admission hyperglycemia predicts poststroke infections and, if so, whether poststroke infections modify the effect of admission hyperglycemia on functional outcome in ischemic stroke. METHODS:We used data from acute ischemic stroke patients in the Preventive Antibiotics in Stroke Study...

journal_title：Neurology

authors： Zonneveld TP,Nederkoorn PJ,Westendorp WF,Brouwer MC,van de Beek D,Kruyt ND,PASS Investigators.

更新日期：2017-04-11 00:00:00

abstract：:Cerebrospinal fluid (CSF) pressure was measured in four groups of patients: 116 with acute pseudotumor cerebri, 18 with chronic pseudotumor cerebri, 41 obese and 15 nonobese normal patients undergoing spinal anesthesia. Spinal fluid pressure between 200 and 250 mm H2O was found in members of each group. This suggests ...

journal_title：Neurology

authors： Corbett JJ,Mehta MP

更新日期：1983-10-01 00:00:00

abstract：OBJECTIVE:To determine age- and sex-specific AD prevalence rates for whites using each of four severity-based definitions of a case: a person diagnosed as having at least questionable AD, one diagnosed as having at least mild AD, one diagnosed as having moderate or severe AD, and one diagnosed as having severe AD. MET...

journal_title：Neurology

authors： Hy LX,Keller DM

更新日期：2000-07-25 00:00:00

abstract：OBJECTIVE:To define a clinical syndrome associated with active drug abuse in HIV-infected individuals. METHODS:We performed a retrospective review to identify individuals treated at the Johns Hopkins Hospital from 1993 to 2008 who were HIV-infected and were actively abusing drugs and had bilateral basal ganglia lesion...

journal_title：Neurology

authors： Newsome SD,Johnson E,Pardo C,McArthur JC,Nath A

更新日期：2011-03-01 00:00:00

abstract：:We carried out a door-to-door-survey to screen a community of 14,010 people (Parsis living in colonies in Bombay, India) for possible neurologic diseases, and used defined diagnostic criteria to evaluate people who tested positive on the screening survey. There were three clinically definite cases of multiple sclerosi...

journal_title：Neurology

authors： Bharucha NE,Bharucha EP,Wadia NH,Singhal BS,Bharucha AE,Bhise AV,Kurtzke JF,Schoenberg BS

更新日期：1988-05-01 00:00:00