Peripheral neuropathy in classic Niemann-Pick disease: ultrastructure of nerves and skeletal muscles.


:A patient with classic (type A) Niemann-Pick disease had the usual clinical signs of failure to thrive, hepatosplenomegaly, and intellectual deterioration in the first year of life. In addition, there was striking hypotonia, areflexia, and abnormal nerve conduction velocities. Pathologically, the Schwann cells were filled with numerous cytoplasmic bodies. These bodies measured 1 mu in diameter and appeared to be dense, round masses with poorly defined internal structure but with occasional slightly curved parallel lines and small radiolucent areas. Peripheral nerve involvement may be a frequent finding in patients with classic Niemann-Pick disease.






Gumbinas M,Larsen M,Mei Liu H




Has Abstract


1975-02-01 00:00:00












  • Effects of breastfeeding in children of women taking antiepileptic drugs.

    abstract:BACKGROUND:Breastfeeding is known to have beneficial effects, but there is concern that breastfeeding during antiepileptic drug (AED) therapy may be harmful to cognitive development. Animal and human studies have demonstrated that some AEDs can adversely affect the immature brain. However, no investigation has examined...


    pub_type: 杂志文章,多中心研究


    authors: Meador KJ,Baker GA,Browning N,Clayton-Smith J,Combs-Cantrell DT,Cohen M,Kalayjian LA,Kanner A,Liporace JD,Pennell PB,Privitera M,Loring DW,NEAD Study Group.

    更新日期:2010-11-30 00:00:00

  • Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem cell transplantation.

    abstract:BACKGROUND:Hematopoietic stem cell transplantation (HSCT) may slow the progression of Krabbe disease (KD) if performed early in the disease. The authors' studies indicate that more than 90% of patients with KD have severe abnormalities in peripheral nerve conduction. OBJECTIVE:To assess the effect of HSCT on nerve con...


    pub_type: 杂志文章


    authors: Siddiqi ZA,Sanders DB,Massey JM

    更新日期:2006-07-25 00:00:00

  • Polymorphism of NACP-Rep1 in Parkinson's disease: an etiologic link with essential tremor?

    abstract::An allele (263bp) of the nonamyloid component of plaques (NACP)-Repl polymorphism has shown association with sporadic PD in a German population. The authors studied this polymorphism in 100 American PD patients and 100 healthy controls. The authors also studied 46 essential tremor (ET) and 55 Huntington's disease (HD)...


    pub_type: 杂志文章


    authors: Tan EK,Matsuura T,Nagamitsu S,Khajavi M,Jankovic J,Ashizawa T

    更新日期:2000-03-14 00:00:00

  • Dystonic posturing in seizures of mesial temporal origin: electroclinical and metabolic patterns.

    abstract:OBJECTIVE:To test the hypothesis that extratemporal neuronal networks are involved in dystonic posturing (DP) observed in mesial temporal epilepsy (MTLE). METHODS:The authors analyzed electroclinical findings in 36 patients with MTLE with or without DP. Three DP types were defined (types I, II, III) corresponding to a...


    pub_type: 杂志文章


    authors: Rusu V,Chassoux F,Landré E,Bouilleret V,Nataf F,Devaux BC,Turak B,Semah F

    更新日期:2005-11-22 00:00:00

  • Correlation of enzyme-inducing anticonvulsant use with outcome of patients with glioblastoma.

    abstract:BACKGROUND:Clinical trials involving patients with glioblastoma (GBM) distinguish cohorts who are treated with enzyme-inducing anticonvulsants (EIAC). Such anticonvulsants induce hepatic P450 microsomal enzymes, which accelerate the metabolism of certain chemotherapy and molecular targeted agents. However, the resultan...


    pub_type: 杂志文章


    authors: Jaeckle KA,Ballman K,Furth A,Buckner JC

    更新日期:2009-10-13 00:00:00

  • Experimental CNS ischemia: serotonin antagonists reduce or prevent damage.

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    pub_type: 杂志文章


    authors: Zivin JA,Venditto JA

    更新日期:1984-04-01 00:00:00

  • A pedigree with protanopia and bulbospinal muscular atrophy.

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    pub_type: 杂志文章


    authors: Mukai E,Yasuma T

    更新日期:1987-06-01 00:00:00

  • Spontaneous intracranial hypotension resulting in stupor caused by diencephalic compression.

    abstract::A 51-year-old man had a 4-month history of progressive headache and gradual onset of somnolence. MRI suggested spontaneous intracranial hypotension (SIH) with diencephalic compression, but he did not improve after three epidural blood patches. He became alert following intrathecal saline infusion that normalized his C...


    pub_type: 杂志文章


    authors: Pleasure SJ,Abosch A,Friedman J,Ko NU,Barbaro N,Dillon W,Fishman RA,Poncelet AN

    更新日期:1998-06-01 00:00:00

  • Clinical course correlates poorly with muscle pathology in nemaline myopathy.

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    pub_type: 杂志文章


    authors: Ryan MM,Ilkovski B,Strickland CD,Schnell C,Sanoudou D,Midgett C,Houston R,Muirhead D,Dennett X,Shield LK,De Girolami U,Iannaccone ST,Laing NG,North KN,Beggs AH

    更新日期:2003-02-25 00:00:00

  • Pontine anosognosia for hemiplegia.

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    pub_type: 杂志文章


    authors: Evyapan D,Kumral E

    更新日期:1999-08-11 00:00:00

  • Forced collectionism after orbitofrontal damage.

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    pub_type: 杂志文章


    authors: Volle E,Beato R,Levy R,Dubois B

    更新日期:2002-02-12 00:00:00

  • Association of orthostatic hypotension with incident dementia, stroke, and cognitive decline.

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    pub_type: 杂志文章


    authors: Rawlings AM,Juraschek SP,Heiss G,Hughes T,Meyer ML,Selvin E,Sharrett AR,Windham BG,Gottesman RF

    更新日期:2018-08-21 00:00:00

  • Dopaminergic effects on encoding of a motor memory in chronic stroke.

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    pub_type: 杂志文章,随机对照试验


    authors: Floel A,Hummel F,Breitenstein C,Knecht S,Cohen LG

    更新日期:2005-08-09 00:00:00

  • Normal pressure hydrocephalus, parkinsonism, and primary empty sella--coincidence or cause-effect?

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    pub_type: 杂志文章


    authors: Spagna VA,Maeder MC,Johnson JC,Mazzaferri EL

    更新日期:1978-11-01 00:00:00

  • Patient-reported outcomes across cerebrovascular event types: More similar than different.

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    pub_type: 杂志文章


    authors: Katzan IL,Schuster A,Newey C,Uchino K,Lapin B

    更新日期:2018-12-04 00:00:00

  • Leptomeningeal metastases: analysis of 31 patients with sustained off-therapy response following combined-modality therapy.

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    pub_type: 杂志文章


    authors: Siegal T,Lossos A,Pfeffer MR

    更新日期:1994-08-01 00:00:00

  • A randomized crossover study of bee sting therapy for multiple sclerosis.

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    pub_type: 杂志文章,随机对照试验


    authors: Wesselius T,Heersema DJ,Mostert JP,Heerings M,Admiraal-Behloul F,Talebian A,van Buchem MA,De Keyser J

    更新日期:2005-12-13 00:00:00

  • Fine analysis of cytolytic and natural killer T lymphocytes in the CSF in multiple sclerosis and other neurologic diseases.

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    pub_type: 杂志文章


    authors: Weber WE,Buurman WA,Vandermeeren MM,Medaer RH,Raus JC

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  • Primary medullary hypertensive hemorrhage.

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    pub_type: 杂志文章


    authors: Neumann PE,Mehler MF,Horoupian DS

    更新日期:1985-06-01 00:00:00

  • Prognostic importance of brainstem auditory evoked responses after asphyxia.

    abstract::Brainstem auditory evoked responses were recorded after acute asphyxia in 126 infants, ages birth through 18 months. Of these, 21 had markedly abnormal amplitude ratios, and all infants with abnormal amplitude ratios had severe neurologic handicaps. An abnormal amplitude ratio predicts long-term neurologic sequelae of...


    pub_type: 杂志文章


    authors: Hecox KE,Cone B

    更新日期:1981-11-01 00:00:00

  • Sign language aphasia due to left occipital lesion in a deaf signer.

    abstract::Localization of sign language production and comprehension in deaf people has been described as similar to that of spoken language aphasia. However, sign language employs a visuospatial modality through visual information. We present the first report of a deaf signer who showed substantial sign language aphasia with s...


    pub_type: 杂志文章


    authors: Saito K,Otsuki M,Ueno S

    更新日期:2007-10-02 00:00:00

  • Clinical, biochemical, and neuropathologic findings following transplantation of adrenal medulla to the caudate nucleus for treatment of Parkinson's disease.

    abstract::We transplanted autologous adrenal medullary tissue into the caudate nucleus of 3 patients with advanced Parkinson's disease. The 1st patient, a 59-year-old man with parkinsonian symptoms for 15 years, had mild improvement in his motor functioning after the operation. However, his postoperative course was characterize...


    pub_type: 杂志文章


    authors: Jankovic J,Grossman R,Goodman C,Pirozzolo F,Schneider L,Zhu Z,Scardino P,Garber AJ,Jhingran SG,Martin S

    更新日期:1989-09-01 00:00:00

  • Recurrent cerebral ischemia in medically treated patent foramen ovale: a meta-analysis.

    abstract:BACKGROUND:Among patients with a patent foramen ovale (PFO) and a prior cryptogenic ischemic stroke or TIA, the absolute and relative risk of recurrent events is unclear. METHODS:We conducted a systematic review and meta-analysis of clinical studies in any language published up to February 2008. We included studies re...


    pub_type: 杂志文章,meta分析,评审


    authors: Almekhlafi MA,Wilton SB,Rabi DM,Ghali WA,Lorenzetti DL,Hill MD

    更新日期:2009-07-14 00:00:00

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    pub_type: 杂志文章,多中心研究


    authors: Pilotto A,Franceschi M,D'Onofrio G,Bizzarro A,Mangialasche F,Cascavilla L,Paris F,Matera MG,Pilotto A,Daniele A,Mecocci P,Masullo C,Dallapiccola B,Seripa D

    更新日期:2009-09-08 00:00:00

  • Narp immunostaining of human hypocretin (orexin) neurons: loss in narcolepsy.

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    pub_type: 杂志文章


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    更新日期:2005-10-25 00:00:00

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    pub_type: 杂志文章


    authors: Mortimer JA,Pirozzolo FJ,Hansch EC,Webster DD

    更新日期:1982-02-01 00:00:00

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    pub_type: 杂志文章


    authors: Jacobson DM,Thompson HS,Corbett JJ

    更新日期:1988-12-01 00:00:00

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    pub_type: 杂志文章,多中心研究


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    更新日期:2017-09-05 00:00:00

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    pub_type: 杂志文章


    authors: Derakhshan I,Massoud A,Foroozanfar N,Nikbin B,Lotfi J,Shakib N,Ala F

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  • Atherosclerotic carotid artery disease in patients with retinal ischemic syndromes.

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    pub_type: 杂志文章


    authors: Chawluk JB,Kushner MJ,Bank WJ,Silver FL,Jamieson DG,Bosley TM,Conway DJ,Cohen D,Savino PJ

    更新日期:1988-06-01 00:00:00