Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).


OBJECTIVE:To use the Unified Batten Disease Rating Scale (UBDRS) to measure the rate of decline in physical and functional capability domains in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) or Batten disease, a neurodegenerative lysosomal storage disorder. We have evaluated the UBDRS in subjects with JNCL since 2002; during that time, the scale has been refined to improve reliability and validity. Now that therapies are being proposed to prevent, slow, or reverse the course of JNCL, the UBDRS will play an important role in quantitatively assessing clinical outcomes in research trials. METHODS:We administered the UBDRS to 82 subjects with JNCL genetically confirmed by CLN3 mutational analysis. Forty-four subjects were seen for more than one annual visit. From these data, the rate of physical impairment over time was quantified using multivariate linear regression and repeated-measures analysis. RESULTS:The UBDRS Physical Impairment subscale shows worsening over time that proceeds at a quantifiable linear rate in the years following initial onset of clinical symptoms. This deterioration correlates with functional capability and is not influenced by CLN3 genotype. CONCLUSION:The UBDRS is a reliable and valid instrument that measures clinical progression in JNCL. Our data support the use of the UBDRS to quantify the rate of progression of physical impairment in subjects with JNCL in clinical trials.






Kwon JM,Adams H,Rothberg PG,Augustine EF,Marshall FJ,Deblieck EA,Vierhile A,Beck CA,Newhouse NJ,Cialone J,Levy E,Ramirez-Montealegre D,Dure LS,Rose KR,Mink JW




Has Abstract


2011-11-15 00:00:00














  • A comparative study of the cerebrovascular complications of cocaine: alkaloidal versus hydrochloride--a review.

    abstract::Cocaine, especially in its alkaloidal or "crack" form, has been increasingly associated with cerebrovascular disease. Before the crack epidemic, cocaine hydrochloride (HCl) was also implicated as a cause of stroke. However, less is known about the differences in stroke subtypes, age at stroke onset, or presence of und...


    pub_type: 杂志文章,评审


    authors: Levine SR,Brust JC,Futrell N,Brass LM,Blake D,Fayad P,Schultz LR,Millikan CH,Ho KL,Welch KM

    更新日期:1991-08-01 00:00:00

  • Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins.

    abstract::Duchenne muscular dystrophy manifested in one of girl twins. The twins were monozygous on the basis of red cell and HL antigens and skin graft compatibility. Karyotyping, including banding techniques, showed a normal number of chromosomes and a normal configuration of the X-chromosome in both twins. The twins were ide...


    pub_type: 杂志文章


    authors: Gomez MR,Engel AG,Dewald G,Peterson HA

    更新日期:1977-06-01 00:00:00

  • Local amygdala structural differences with 3T MRI in patients with Alzheimer disease.

    abstract:OBJECTIVE:Histologic studies show that the amygdala is affected by Alzheimer disease (AD) pathology, and its medial aspect is the most involved. We aimed to assess in vivo local structural differences in the amygdala of patients with AD using high-field MRI. METHODS:A total of 19 patients with AD (mean age 76, SD 6 ye...


    pub_type: 杂志文章


    authors: Cavedo E,Boccardi M,Ganzola R,Canu E,Beltramello A,Caltagirone C,Thompson PM,Frisoni GB

    更新日期:2011-02-22 00:00:00

  • "Gourmand syndrome": eating passion associated with right anterior lesions.

    abstract::We present a new benign eating disorder associated with lesions involving parts of the right anterior cerebral hemisphere. This "gourmand" syndrome describes a preoccupation with food and a preference for fine eating. Two exemplary case reports illustrate this new syndrome. Analysis of the clinical and anatomical data...


    pub_type: 杂志文章,评审


    authors: Regard M,Landis T

    更新日期:1997-05-01 00:00:00

  • Hyperzincemia in anencephaly and spina bifida: a clue to the pathogenesis of neural tube defects?

    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...


    pub_type: 杂志文章


    authors: Zimmerman AW

    更新日期:1984-04-01 00:00:00

  • Double-blind crossover comparison of Tegretol-XR and Tegretol in patients with epilepsy. The Tegretol OROS Osmotic Release Delivery System Study Group.

    abstract::This multicenter, double-blind, crossover study compared Tegretol-XR and Tegretol tablets with respect to trough plasma carbamazepine (CBZ) concentrations, seizure control, tolerability, and safety. We randomized 96 patients with epilepsy to 56-day monotherapy with their usual daily CBZ dose administered as (1) Tegret...


    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验



    更新日期:1995-09-01 00:00:00

  • Comorbidity is associated with disease activity in MS: Findings from the CombiRx trial.

    abstract:OBJECTIVE:To determine whether comorbidity is associated with clinical (relapses, disability worsening) and MRI outcomes in multiple sclerosis (MS) by conducting a secondary analysis of the CombiRx clinical trial. METHODS:CombiRx compared interferon beta-1a, glatiramer acetate, and the combination of these agents. For...


    pub_type: 杂志文章,随机对照试验


    authors: Salter A,Kowalec K,Fitzgerald KC,Cutter G,Marrie RA

    更新日期:2020-08-04 00:00:00

  • Phenotype of adult Refsum disease due to a defect in peroxin 7.

    abstract::The biochemical hallmark of adult Refsum disease (ARD) is an isolated deficiency in the breakdown of phytanic acid. This usually results from a PHYH gene defect, although some cases have been found to carry a PEX7 defect. We describe the phenotype of such a patient, indistinguishable from that of classic ARD. Hence, w...


    pub_type: 杂志文章


    authors: Horn MA,van den Brink DM,Wanders RJ,Duran M,Poll-The BT,Tallaksen CM,Stokke OH,Moser H,Skjeldal OH

    更新日期:2007-02-27 00:00:00

  • Dopaminergic mechanisms in hemiparkinsonian monkeys.

    abstract::The motor effects of direct agonists which act selectively on certain dopamine receptors were studied in monkeys rendered hemiparkinsonian by unilateral intracarotid injection of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP). The D-2 dopamine agonist, LY 171555, but not the D-1 agonist, SKF 38393, reduced parkin...


    pub_type: 杂志文章


    authors: Barone P,Bankiewicz KS,Corsini GU,Kopin IJ,Chase TN

    更新日期:1987-10-01 00:00:00

  • Comment on 2018 American Academy of Neurology guidelines on disease-modifying therapies in MS.

    abstract::The American Academy of Neurology has published a comprehensive review and guidelines for the use of disease-modifying therapies (DMTs) in multiple sclerosis (MS) for the first time since 2002. These guidelines represent the work of MS experts, patients, and guideline experts and are based on their review of randomize...


    pub_type: 杂志文章,评审


    authors: Corboy JR,Weinshenker BG,Wingerchuk DM

    更新日期:2018-06-12 00:00:00

  • Lesch-Nyhan syndrome: CSF neurotransmitter abnormalities.

    abstract::Serial determinations of spinal fluid homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) were made in four patients with the Lesch-Nyhan syndrome over a 5-year period. Control spinal fluids for age-matched comparison were obtained from 194 neurologic and nonneurologic pediatric patients. A rapid decline i...


    pub_type: 杂志文章


    authors: Silverstein FS,Johnston MV,Hutchinson RJ,Edwards NL

    更新日期:1985-06-01 00:00:00

  • Efficacy of High-Intensity Aerobic Exercise on Brain MRI Measures in Multiple Sclerosis.

    abstract:OBJECTIVE:To determine whether 24 weeks of high-intensity progressive aerobic exercise (PAE) affects brain MRI measures in people with multiple sclerosis (MS). METHODS:We conducted a randomized, controlled, phase 2 trial (with a crossover follow-up) including an exercise group (supervised PAE followed by self-guided p...


    pub_type: 杂志文章,多中心研究,随机对照试验


    authors: Langeskov-Christensen M,Grøndahl Hvid L,Nygaard MKE,Ringgaard S,Jensen HB,Nielsen HH,Petersen T,Stenager E,Eskildsen SF,Dalgas U

    更新日期:2021-01-12 00:00:00

  • Subregional loss of putaminal efferents to the basal ganglia output nuclei may cause parkinsonism in striatonigral degeneration.

    abstract::In this study, we examined the topographic involvement of the putaminal projection neurons and their axons in the globus pallidus and substantia nigra, which we visualized by calcineurin immunostaining, in the basal ganglia of patients with striatonigral degeneration (SND). In all cases examined, there was a marked de...


    pub_type: 杂志文章


    authors: Goto S,Matsumoto S,Ushio Y,Hirano A

    更新日期:1996-10-01 00:00:00

  • CSF hypocretin-1 levels in restless legs syndrome.

    abstract::CSF hypocretin-1 levels at 6 PM did not significantly differ between patients with restless legs syndrome (RLS) and control subjects as measured by direct radioimmunoassay and after acid extraction. The authors did not observe significant differences between early onset and late onset RLS. Hypocretin-1 levels did not ...


    pub_type: 杂志文章


    authors: Stiasny-Kolster K,Mignot E,Ling L,Möller JC,Cassel W,Oertel WH

    更新日期:2003-11-25 00:00:00

  • Prevalence and correlates of periodic limb movements in OSA and the effect of CPAP therapy.

    abstract:OBJECTIVE:We sought to assess the prevalence, correlates, and consequences of periodic limb movements of sleep (PLMS) in persons with obstructive sleep apnea (OSA) and the effect (worsening or improvement) of continuous positive airway pressure (CPAP) therapy on PLMS in a large prospective multicenter randomized contro...


    pub_type: 杂志文章


    authors: Budhiraja R,Javaheri S,Pavlova MK,Epstein LJ,Omobomi O,Quan SF

    更新日期:2020-04-28 00:00:00

  • Diffusion tensor imaging and cognitive function in older adults with no dementia.

    abstract:OBJECTIVE:To determine the patterns of diffusivity associated with cognitive domain functions in older adults without dementia. METHODS:We studied older adults without dementia (n = 220) who underwent neuropsychometric testing and a diffusion tensor imaging (DTI) examination at 3 T in a cross-sectional study. Memory, ...


    pub_type: 杂志文章


    authors: Kantarci K,Senjem ML,Avula R,Zhang B,Samikoglu AR,Weigand SD,Przybelski SA,Edmonson HA,Vemuri P,Knopman DS,Boeve BF,Ivnik RJ,Smith GE,Petersen RC,Jack CR Jr

    更新日期:2011-07-05 00:00:00

  • Spinal cord infarction: etiology and outcome.

    abstract::We reviewed 44 cases of ischemia and infarction of the spinal cord at two university hospitals. Three patients experienced transient ischemic attacks. Etiologies of completed strokes were diverse and included rupture and surgical repair of aortic aneurysms, aortic dissection, aortic rupture and thrombosis, global isch...


    pub_type: 杂志文章


    authors: Cheshire WP,Santos CC,Massey EW,Howard JF Jr

    更新日期:1996-08-01 00:00:00

  • Quantitative MRI in temporal lobe epilepsy: evidence for fornix atrophy.

    abstract:OBJECTIVE:To investigate whether the fornix and mamillary bodies, being part of the limbic system, are abnormal in patients with mesial temporal lobe epilepsy (MTLE). BACKGROUND:The limbic system comprises the hippocampal formation, fornix, mamillary bodies, thalamus, and other integrated structures. This system is im...


    pub_type: 杂志文章


    authors: Kuzniecky R,Bilir E,Gilliam F,Faught E,Martin R,Hugg J

    更新日期:1999-08-11 00:00:00

  • Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome.

    abstract::We studied three patients with Leigh's syndrome (LS) and cytochrome c oxidase (COX) deficiency. Biochemical studies in brain, muscle, heart, liver, kidney, and fibroblasts disclosed a generalized COX deficiency. Kinetic studies of COX activity in brain mitochondria showed a low Vmax and a normal Km for reduced cytochr...


    pub_type: 杂志文章


    authors: Lombes A,Nakase H,Tritschler HJ,Kadenbach B,Bonilla E,DeVivo DC,Schon EA,DiMauro S

    更新日期:1991-04-01 00:00:00

  • Predicting prognosis after stroke: a placebo group analysis from the National Institute of Neurological Disorders and Stroke rt-PA Stroke Trial.

    abstract:BACKGROUND:Physicians are often asked to predict outcome after acute stroke. Very little information is available that can reliably predict the likelihood of severe disability or death. OBJECTIVE:To develop a practical method for predicting a poor outcome after acute ischemic stroke. METHODS:Data from the placebo arm...


    pub_type: 杂志文章


    authors: Frankel MR,Morgenstern LB,Kwiatkowski T,Lu M,Tilley BC,Broderick JP,Libman R,Levine SR,Brott T

    更新日期:2000-10-10 00:00:00

  • Effects of 3-OM-dopa on monoamine metabolism in rat brain.

    abstract::We studied the effects of 3-methoxy, 4-hydroxy-phenylalanine (3-OM-dopa) on monoamine turnover, L-3-4-dihydroxy-phenylalanine (L-dopa) reversal of catecholamine depletion induced by alpha-methyl-paratyrosine (alpha-MT), and the passage of L-dopa across the blood-brain barrier of the rat brain. 3-OM-dopa did not affect...


    pub_type: 杂志文章


    authors: Gervas JJ,Muradás V,Bazán E,Aguado EG,de Yébenes JG

    更新日期:1983-03-01 00:00:00

  • Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation.

    abstract::The authors describe an infant with vanishing white matter disease with demyelinating peripheral neuropathy. Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutam...


    pub_type: 杂志文章


    authors: Federico A,Scali O,Stromillo ML,Di Perri C,Bianchi S,Sicurelli F,De Stefano N,Malandrini A,Dotti MT

    更新日期:2006-07-25 00:00:00

  • Lifetime cumulative incidence of dementia in a community-dwelling elderly population in Japan.

    abstract:OBJECTIVE:To estimate the lifetime cumulative incidence of dementia and its subtypes from a community-dwelling elderly population in Japan. METHODS:A total of 1,193 community-dwelling Japanese individuals without dementia, aged 60 years or older, were followed up prospectively for 17 years. The cumulative incidence of...


    pub_type: 杂志文章


    authors: Yoshida D,Ohara T,Hata J,Shibata M,Hirakawa Y,Honda T,Furuta Y,Oishi E,Sakata S,Kanba S,Kitazono T,Ninomiya T

    更新日期:2020-08-04 00:00:00

  • Prospective study of military service and mortality from ALS.

    abstract:BACKGROUND:Two recent studies suggest that the risk of ALS is increased among Gulf War veterans. It is not known whether military service outside of the Gulf War is associated with increased risk of ALS. METHODS:The authors prospectively assessed the relation between service in the military and ALS mortality among par...


    pub_type: 杂志文章


    authors: Weisskopf MG,O'Reilly EJ,McCullough ML,Calle EE,Thun MJ,Cudkowicz M,Ascherio A

    更新日期:2005-01-11 00:00:00

  • Biological age is better than chronological as predictor of 3-month outcome in ischemic stroke.

    abstract:OBJECTIVE:To analyze the effect of age-related DNA methylation changes in multiple cytosine-phosphate-guanine (CpG) sites (biological age [b-age]) on patient outcomes at 3 months after an ischemic stroke. METHODS:We included 511 patients with first-ever acute ischemic stroke assessed at Hospital del Mar (Barcelona, Sp...


    pub_type: 杂志文章


    authors: Soriano-Tárraga C,Mola-Caminal M,Giralt-Steinhauer E,Ois A,Rodríguez-Campello A,Cuadrado-Godia E,Gómez-González A,Vivanco-Hidalgo RM,Fernández-Cadenas I,Cullell N,Roquer J,Jiménez-Conde J

    更新日期:2017-08-22 00:00:00

  • The anatomic basis of delusions after right cerebral infarction.

    abstract::We studied the nature and causes of delusions after infarction of the right cerebral hemisphere. Delusions involved orientation in time and place, events in the recent past, and the identities of familiar individuals. Some were transient and disorganized, and others were more fixed. No particular site in the right hem...


    pub_type: 杂志文章


    authors: Levine DN,Grek A

    更新日期:1984-05-01 00:00:00

  • Transient drug-induced abolition of BAEPs in coma.

    abstract::Combined infusion of high doses of lidocaine and thiopental in a comatose patient induced major latency and amplitude BAEP changes, which progressed to complete BAEP abolition. Responses returned to normal after drugs were discontinued. EEGs during the episodes showed long-lasting periods of activity suppression, but ...


    pub_type: 杂志文章


    authors: García-Larrea L,Artru F,Bertrand O,Pernier J,Mauguière F

    更新日期:1988-09-01 00:00:00

  • Subtraction ictal SPECT co-registered to MRI improves clinical usefulness of SPECT in localizing the surgical seizure focus.

    abstract::Traditional side-by-side visual interpretation of ictal and interictal single-photon emission computed tomography (SPECT) scans can be difficult in identifying the surgical focus, particularly in patients with extratemporal or otherwise unlocalized intractable epilepsy. Computer-aided subtraction ictal SPECT co-regist...


    pub_type: 杂志文章


    authors: O'Brien TJ,So EL,Mullan BP,Hauser MF,Brinkmann BH,Bohnen NI,Hanson D,Cascino GD,Jack CR Jr,Sharbrough FW

    更新日期:1998-02-01 00:00:00

  • Unsteady gaze fixation enhances the severity of MS intention tremor.

    abstract:BACKGROUND:Patients with arm intention tremor due to multiple sclerosis (MS) often manifest eye movement deficits, illustrating the role of infratentorial brain in both ocular and manual movement control. Our previous study showed that both the amplitude of intention tremor and eye fixational movements were greatly enh...


    pub_type: 杂志文章


    authors: Feys P,Helsen W,Nuttin B,Lavrysen A,Ketelaer P,Swinnen S,Liu X

    更新日期:2008-01-08 00:00:00

  • Prehospital selection of thrombectomy candidates beyond large vessel occlusion: M-DIRECT scale.

    abstract:OBJECTIVE:Current prehospital scales used to detect large vessel occlusion reveal very low endovascular thrombectomy (EVT) rates among selected patients. We developed a novel prehospital scale, the Madrid-Direct Referral to Endovascular Center (M-DIRECT), to identify EVT candidates for direct transfer to EVT-capable ce...


    pub_type: 杂志文章


    authors: Rodríguez-Pardo J,Riera-López N,Fuentes B,Alonso de Leciñana M,Secades-García S,Álvarez-Fraga J,Busca-Ostolaza P,Carneado-Ruiz J,Díaz-Guzmán J,Egido-Herrero J,Gil-Núñez A,Masjuan-Vallejo J,Real-Martínez V,Vivancos-Mora J,Díez

    更新日期:2020-02-25 00:00:00