Proton magnetic resonance spectroscopic imaging in patients with cerebellar degeneration.

abstract：:A 53-year-old man was diagnosed 8 years earlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC) activity. He was found to have eight nucleotide changes on the two copies of his GALC gene, including two in the leader sequence, four considered polymorphisms,...

journal_title：Annals of neurology

authors： Luzi P,Rafi MA,Wenger DA

更新日期：1996-07-01 00:00:00

abstract：:Two family members with hereditary pressure-sensitive neuropathy are reported. One patient presented atypically with acute brachial plexus neuropathy following transaxillary removal of the first rib. Electrophysiological studies showed slowing of motor nerve conduction in clinically affected and unaffected nerves. In ...

journal_title：Annals of neurology

authors： Bosch EP,Chui HC,Martin MA,Cancilla PA

更新日期：1980-12-01 00:00:00

abstract：:Reductions in cerebral metabolism sufficient to impair cognition in normal individuals also occur in Alzheimer's disease (AD). The degree of clinical disability in AD correlates closely to the magnitude of the reduction in brain metabolism. Therefore, we tested whether impairments in tricarboxylic acid (TCA) cycle enz...

journal_title：Annals of neurology

authors： Bubber P,Haroutunian V,Fisch G,Blass JP,Gibson GE

更新日期：2005-05-01 00:00:00

abstract：:Brains from male cases with dyslexia show symmetry of the planum temporale and predominantly left-sided cerebrocortical microdysgenesis. We now report on three women with dyslexia. In all brains, the planum temporale was again symmetrical. Also, in two of the brains, multiple foci of cerebrocortical glial scarring wer...

journal_title：Annals of neurology

authors： Humphreys P,Kaufmann WE,Galaburda AM

更新日期：1990-12-01 00:00:00

abstract：:Multiple sclerosis (MS) is characterized by patchy accumulations of inflammatory cells combined with demyelination. There are mononuclear cells in blood and cerebrospinal fluid of patients with MS that produce interferon-gamma and interleukin-4 in response to myelin basic protein (MBP) and proteolipid protein (PLP). H...

journal_title：Annals of neurology

authors： Link J,Fredrikson S,Söderström M,Olsson T,Höjeberg B,Ljungdahl A,Link H

更新日期：1994-02-01 00:00:00

abstract：OBJECTIVE:To design a new class of selective neuronal nitric oxide synthase (NOS) inhibitors, and demonstrate that administration in a rabbit model for cerebral palsy (CP) prevents hypoxia-ischemia-induced deaths and reduces the number of newborn kits exhibiting signs of CP. METHODS:We used a novel computer-based drug...

journal_title：Annals of neurology

authors： Ji H,Tan S,Igarashi J,Li H,Derrick M,Martásek P,Roman LJ,Vásquez-Vivar J,Poulos TL,Silverman RB

更新日期：2009-02-01 00:00:00

abstract：:The incidence of periventricular-intraventricular hemorrhage (PV-IVH) in a group of 460 preterm infants with birth weight less than 2,250 gm, studied by cranial ultrasonography, was 39%. Sixty-four (36%) of the infants with periventricular-intraventricular hemorrhage had, in addition, periventricular intraparenchymal ...

journal_title：Annals of neurology

authors： McMenamin JB,Shackelford GD,Volpe JJ

更新日期：1984-03-01 00:00:00

abstract：:A hereditary ceruloplasmin deficiency associated with severe iron deposition in visceral organ and brain tissues found on histopathological examination at autopsy is discussed. Three siblings of consanguineous Japanese parents were studied. Their clinical symptoms were progressive dementia, extrapyramidal disorders, c...

journal_title：Annals of neurology

authors： Morita H,Ikeda S,Yamamoto K,Morita S,Yoshida K,Nomoto S,Kato M,Yanagisawa N

更新日期：1995-05-01 00:00:00

abstract：:Two recent case-control studies have suggested a strong association of a missense polymorphism in exon 2 of the cathepsin D gene (CTSD) and Alzheimer disease (AD). However, these findings were not confirmed in another independent study. We analyzed this polymorphism in two large and independent AD study populations an...

journal_title：Annals of neurology

authors： Bertram L,Guénette S,Jones J,Keeney D,Mullin K,Crystal A,Basu S,Yhu S,Deng A,Rebeck GW,Hyman BT,Go R,McInnis M,Blacker D,Tanzi R

更新日期：2001-01-01 00:00:00

abstract：OBJECTIVE:Loss of function mutations in PINK1 typically lead to early onset Parkinson disease (PD). Zebrafish (Danio rerio) are emerging as a powerful new vertebrate model to study neurodegenerative diseases. We used a pink1 mutant (pink(-/-) ) zebrafish line with a premature stop mutation (Y431*) in the PINK1 kinase d...

journal_title：Annals of neurology

authors： Flinn LJ,Keatinge M,Bretaud S,Mortiboys H,Matsui H,De Felice E,Woodroof HI,Brown L,McTighe A,Soellner R,Allen CE,Heath PR,Milo M,Muqit MM,Reichert AS,Köster RW,Ingham PW,Bandmann O

更新日期：2013-12-01 00:00:00

abstract：OBJECTIVE:Narcolepsy is caused by the loss of hypocretin/orexin neurons in the hypothalamus, which is likely the result of an autoimmune process. Recently, concern has been raised over reports of narcolepsy in northern Europe following H1N1 vaccination. METHODS:The study is a retrospective analysis of narcolepsy onset...

journal_title：Annals of neurology

authors： Han F,Lin L,Warby SC,Faraco J,Li J,Dong SX,An P,Zhao L,Wang LH,Li QY,Yan H,Gao ZC,Yuan Y,Strohl KP,Mignot E

更新日期：2011-09-01 00:00:00

abstract：:Passive joint position sense was tested in 10 subjects after unilateral total hip replacement surgery (which included capsulectomy). Varied initial limb position, amplitude, and velocity of movement were used. The unoperated side was used as a control. Statistically barely significant errors (p less than 0.025) on the...

journal_title：Annals of neurology

authors： Karanjia PN,Ferguson JH

更新日期：1983-06-01 00:00:00

abstract：:The value of various enhancement techniques as opposed to nonenhanced CT scanning was compared in 15 baboons with cerebral infarction secondary to embolization of the left middle cerebral artery. The most prominent CT findings in infarction included an area of low absorption in the opercula--basal ganglia--centrum sem...

journal_title：Annals of neurology

authors： Drayer BP,Dujovny M,Wolfson SK Jr,Boehnke M,Cook EE,Rosenbaum AE

更新日期：1979-01-01 00:00:00

abstract：OBJECTIVE:Alterations of the gut microbiome in Parkinson disease (PD) have been repeatedly demonstrated. However, little is known about whether such alterations precede disease onset and how they relate to risk and prodromal markers of PD. We investigated associations of these features with gut microbiome composition. ...

journal_title：Annals of neurology

authors： Heinzel S,Aho VTE,Suenkel U,von Thaler AK,Schulte C,Deuschle C,Paulin L,Hantunen S,Brockmann K,Eschweiler GW,Maetzler W,Berg D,Auvinen P,Scheperjans F

更新日期：2020-08-01 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：:Pyruvate dehydrogenase deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. Most cases are caused by mutations in the X-linked gene for the E1alpha subunit of the complex. Mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core...

journal_title：Annals of neurology

authors： Head RA,Brown RM,Zolkipli Z,Shahdadpuri R,King MD,Clayton PT,Brown GK

更新日期：2005-08-01 00:00:00

abstract：:Association studies have implicated common variants in the 12q14.1 region containing CYP27B1 in multiple sclerosis (MS). Rare CYP27B1 mutations cause autosomal recessive vitamin D-dependent rickets type 1, and it has recently been reported that heterozygous CYP27B1 mutations are associated with increased MS susceptibi...

journal_title：Annals of neurology

authors： Barizzone N,Pauwels I,Luciano B,Franckaert D,Guerini FR,Cosemans L,Hilven K,Salviati A,Dooley J,Danso-Abeam D,di Sapio A,Cavalla P,Decallonne B,Mathieu C,Liston A,Leone M,Dubois B,D'Alfonso S,Goris A

更新日期：2013-03-01 00:00:00

abstract：:Six patients with Parkinson's disease were followed for 10 to 72 months after human embryonic mesencephalic tissue from four to seven donors was grafted unilaterally into the putamen (4 patients) or putamen plus caudate (2 patients). After 8 to 12 months, positron emission tomography showed a 68% increase of 6-L-[18F]...

journal_title：Annals of neurology

authors： Wenning GK,Odin P,Morrish P,Rehncrona S,Widner H,Brundin P,Rothwell JC,Brown R,Gustavii B,Hagell P,Jahanshahi M,Sawle G,Björklund A,Brooks DJ,Marsden CD,Quinn NP,Lindvall O

更新日期：1997-07-01 00:00:00

abstract：:The present study aimed at determining the distribution and somatotopical organization of striatal activation during performance of simple motor tasks. Ten right-handed healthy volunteers were studied by using a 3-T whole-body magnetic resonance unit and echo planar imaging. The tasks consisted of self-paced flexion/e...

journal_title：Annals of neurology

authors： Lehéricy S,van de Moortele PF,Lobel E,Paradis AL,Vidailhet M,Frouin V,Neveu P,Agid Y,Marsault C,Le Bihan D

更新日期：1998-09-01 00:00:00

abstract：:A 56-year-old man was seen with subacute cerebellar degeneration and was found to have oat cell carcinoma of the lung. Antibodies to cerebellar Purkinje cells and granule cells were detected in both serum and cerebrospinal fluid (CSF), and intrathecal antibody synthesis was suggested by serum CSF antibody ratios, CSF ...

journal_title：Annals of neurology

authors： Greenlee JE,Lipton HL

更新日期：1986-01-01 00:00:00

abstract：OBJECTIVE:Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK w...

journal_title：Annals of neurology

authors： Mendell JR,Shilling C,Leslie ND,Flanigan KM,al-Dahhak R,Gastier-Foster J,Kneile K,Dunn DM,Duval B,Aoyagi A,Hamil C,Mahmoud M,Roush K,Bird L,Rankin C,Lilly H,Street N,Chandrasekar R,Weiss RB

更新日期：2012-03-01 00:00:00

abstract：:The subtype IV of Machado-Joseph disease (MJD), characterized by parkinsonism variably combined with ataxia, distal atrophy, and sensory loss, has been all but ignored in recent reports of MJD, including those describing the molecular biologic substrate of the disease. We have demonstrated expansion of the CAG trinucl...

journal_title：Annals of neurology

authors： Tuite PJ,Rogaeva EA,St George-Hyslop PH,Lang AE

更新日期：1995-10-01 00:00:00

abstract：:The activities of complex I and complex II/III in platelet mitochondria are reduced in patients with early, untreated Parkinson's disease. Coenzyme Q10 is the electron acceptor for complex I and complex II. We found that the level of coenzyme Q10 was significantly lower in mitochondria from parkinsonian patients than ...

journal_title：Annals of neurology

authors： Shults CW,Haas RH,Passov D,Beal MF

更新日期：1997-08-01 00:00:00

abstract：:A 30-year-old male drug abuser developed ophthalmoplegia, bulbar paralysis, and limb weakness responsive to edrophonium. However, potentiation of a low-amplitude evoked muscle action potential was produced with repetitive nerve stimulation at 10 Hz, and the clinical and electrophysiological data suggested the diagnosi...

journal_title：Annals of neurology

authors： Rapoport S,Watkins PB

更新日期：1984-09-01 00:00:00

abstract：:Huntington's disease is a genetic disorder that causes motor dysfunction, personality changes, dementia, and premature death. There is currently no effective therapy. Several transgenic models of Huntington's disease are available, the most widely used of which is the R6/2 mouse, because of its rapid disease progressi...

journal_title：Annals of neurology

authors： Hockly E,Cordery PM,Woodman B,Mahal A,van Dellen A,Blakemore C,Lewis CM,Hannan AJ,Bates GP

更新日期：2002-02-01 00:00:00

abstract：:Successful axon regeneration depends on the expression of regeneration-associated genes by axotomized neurons. Here, we demonstrate, for the first time to our knowledge, the expression of regeneration-associated genes by axotomized human CNS neurons. In situ hybridization and immunohistochemistry showed a transient in...

journal_title：Annals of neurology

authors： Schmitt AB,Breuer S,Polat L,Pech K,Kakulas B,Love S,Martin D,Schoenen J,Noth J,Brook GA

更新日期：2003-10-01 00:00:00

abstract：:The pathogenetic role of anti-GM1 in chronic acquired demyelinating polyneuropathy (CADP) is uncertain. An association between antibodies and disease activity has not yet been established. In 8 patients with CADP followed longitudinally, anti-GM1 antibodies were monitored with a standardized enzyme-linked immunosorben...

journal_title：Annals of neurology

authors： Bech E,Andersen H,Orntoft TF,Jakobsen J

更新日期：1998-01-01 00:00:00

abstract：:In a patient with acquired immunodeficiency disease syndrome (AIDS) and muscle weakness, a muscle biopsy specimen disclosed degeneration of muscle fibers, regeneration, and focal endomysial mononuclear inflammation. A conspicuous feature was the presence of perivascular macrophages within the endomysium that showed po...

journal_title：Annals of neurology

authors： Chad DA,Smith TW,Blumenfeld A,Fairchild PG,DeGirolami U

更新日期：1990-10-01 00:00:00

abstract：:We present a patient with hemidystonia and an abnormality of the contralateral basal ganglion seen only with positron emission tomography. A 50-year-old sinistral man suffered minor trauma to the right side of his head and neck. Within 20 minutes he developed paroxysmal intermittent dystonic posturing of his right fac...

journal_title：Annals of neurology

authors： Perlmutter JS,Raichle ME

更新日期：1984-03-01 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