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

Abstract:

: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.

journal_name

Neurology

journal_title

Neurology

authors

Gumbinas M,Larsen M,Mei Liu H

doi

10.1212/wnl.25.2.107

subject

Has Abstract

pub_date

1975-02-01 00:00:00

pages

107-13

issue

2

eissn

0028-3878

issn

1526-632X

journal_volume

25

pub_type

杂志文章
  • Effect of rebleeding on the course and incidence of vasospasm after subarachnoid hemorrhage.

    abstract:OBJECTIVE:Rebleeding of an aneurysm is a leading cause of morbidity and mortality after subarachnoid hemorrhage (SAH). Whereas numerous studies have demonstrated the risk factors associated with rebleeding, few data on complications of rebleeding, including its effect on the development of delayed cerebral ischemia (DC...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31823ed0a4

    authors: Lord AS,Fernandez L,Schmidt JM,Mayer SA,Claassen J,Lee K,Connolly ES,Badjatia N

    更新日期:2012-01-03 00:00:00

  • Creatine monohydrate increases strength in patients with neuromuscular disease.

    abstract::Creatine monohydrate has been shown to increase strength in studies of young healthy subjects and in a few studies with patients. Creatine monohydrate (10 g daily for 5 days to 5 g daily for 5 days) was administered to patients with neuromuscular disease in a pilot study (Study 1; n = 81), followed by a single-blinded...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章

    doi:10.1212/wnl.52.4.854

    authors: Tarnopolsky M,Martin J

    更新日期:1999-03-10 00:00:00

  • Neonatal Guillain-Barré syndrome: blocking antibodies transmitted from mother to child.

    abstract:OBJECTIVE:To investigate the role of blocking antibodies in neonatal Guillain-Barré syndrome (GBS) occurring 12 days postpartum in a child born to a mother with ongoing GBS. METHODS:We studied plasma filtrate, purified IgG, and monovalent Fab fragments from the affected mother and serum from the neonate as well as ser...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.53.6.1246

    authors: Buchwald B,de Baets M,Luijckx GJ,Toyka KV

    更新日期:1999-10-12 00:00:00

  • Circadian fluctuations of contrast sensitivity in Parkinson's disease.

    abstract::Spontaneous circadian fluctuations of motor symptoms in Parkinson's disease (PD) often occur, with dysfunction typically less severe in the early morning than in the afternoon. In 23 PD patients with or without a history of circadian motor fluctuations, we studied contrast sensitivity (CS), a non-motor function, consi...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.40.3_part_1.467

    authors: Struck LK,Rodnitzky RL,Dobson JK

    更新日期:1990-03-01 00:00:00

  • Hemispatial and directional performance biases in motor neglect.

    abstract::Motivationally responsive motor deficits may occur in isolation or as part of more general neglect syndromes. We describe three patients with two discrete syndromes of isolated motor neglect, differentiated primarily by their performance in motor tasks enacted within or toward the contralesional hemispace. The lesions...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.45.3.525

    authors: Simon ES,Hegarty AM,Mehler MF

    更新日期:1995-03-01 00:00:00

  • Effect of comorbidity on mortality in multiple sclerosis.

    abstract:OBJECTIVE:We aimed to compare survival in the multiple sclerosis (MS) population with a matched cohort from the general population, and to evaluate the association of comorbidity with survival in both populations. METHODS:Using population-based administrative data, we identified 5,797 persons with MS and 28,807 contro...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000001718

    authors: Marrie RA,Elliott L,Marriott J,Cossoy M,Blanchard J,Leung S,Yu N

    更新日期:2015-07-21 00:00:00

  • Relation of EEG alpha background to parietal lobe function in Alzheimer's disease as measured by positron emission tomography and psychometry.

    abstract::Fourteen patients with Alzheimer's disease were evaluated by psychometric testing, fluorodeoxyglucose positron emission tomography (PET), and EEG. They were divided into two groups according to the EEG findings. Group A (seven patients) had normal alpha backgrounds and group B (seven patients) had decreased alpha back...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.38.5.747

    authors: Sheridan PH,Sato S,Foster N,Bruno G,Cox C,Fedio P,Chase TN

    更新日期:1988-05-01 00:00:00

  • The ALSSQOL: balancing physical and nonphysical factors in assessing quality of life in ALS.

    abstract:BACKGROUND:There is no generally accepted instrument for measuring quality of life (QOL) in patients with ALS. Current instruments are either too heavily weighted toward strength and physical function or useful for the evaluation of individuals but of less utility in assessing large samples. OBJECTIVE:To develop and e...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000242887.79115.19

    authors: Simmons Z,Felgoise SH,Bremer BA,Walsh SM,Hufford DJ,Bromberg MB,David W,Forshew DA,Heiman-Patterson TD,Lai EC,McCluskey L

    更新日期:2006-11-14 00:00:00

  • Nigral dysfunction in drug-induced parkinsonism: an 18F-dopa PET study.

    abstract::We studied 13 patients with severe drug-induced parkinsonism (DIP) using L-6-[18F]fluorodopa positron emission tomography (18F-dopa PET) to investigate the integrity of their dopaminergic nigrostriatal projections. Twelve of these patients were subsequently followed clinically for a median of 23.5 months (range, 6 to ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.43.3_part_1.552

    authors: Burn DJ,Brooks DJ

    更新日期:1993-03-01 00:00:00

  • Trigeminal sensory neuropathy associated with connective tissue diseases.

    abstract::We reviewed the clinical and laboratory features of 81 patients who had trigeminal sensory neuropathy (TSN) and a connective tissue disease (CTD). The neuropathy developed before the symptoms of CTD in 6/81 patients (7%), and in 38/81 patients (47%) TSN and CTD were diagnosed concurrently. The most frequently associat...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.40.6.891

    authors: Hagen NA,Stevens JC,Michet CJ Jr

    更新日期:1990-06-01 00:00:00

  • Increasing atrial fibrillation prevalence in acute ischemic stroke and TIA.

    abstract:OBJECTIVE:To evaluate trends in atrial fibrillation (AF) prevalence in acute ischemic stroke (AIS) and TIA in the United States. METHODS:We used the Nationwide Inpatient Sample to retrospectively compute weighted prevalence of AF in AIS (n = 4,355,140) and TIA (n = 1,816,459) patients admitted to US hospitals from 200...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000003321

    authors: Otite FO,Khandelwal P,Chaturvedi S,Romano JG,Sacco RL,Malik AM

    更新日期:2016-11-08 00:00:00

  • Seizures and their outcome in progressive multifocal leukoencephalopathy.

    abstract::Seizures are not expected in progressive multifocal leukoencephalopathy (PML), a condition considered to be restricted to the white matter. Review of medical records of 89 patients with possible or proven PML showed an 18% prevalence of seizures. Seizures usually responded well to treatment and did not affect survival...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000194227.16696.11

    authors: Lima MA,Drislane FW,Koralnik IJ

    更新日期:2006-01-24 00:00:00

  • HLA B*44: protective effects in MS susceptibility and MRI outcome measures.

    abstract:OBJECTIVE:In addition to the main multiple sclerosis (MS) major histocompatibility complex (MHC) risk allele (HLA DRB1*1501), investigations of the MHC have implicated several class I MHC loci (HLA A, HLA B, and HLA C) as potential independent MS susceptibility loci. Here, we evaluate the role of 3 putative protective ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3181ed9c9c

    authors: Healy BC,Liguori M,Tran D,Chitnis T,Glanz B,Wolfish C,Gauthier S,Buckle G,Houtchens M,Stazzone L,Khoury S,Hartzmann R,Fernandez-Vina M,Hafler DA,Weiner HL,Guttmann CR,De Jager PL

    更新日期:2010-08-17 00:00:00

  • Warm and cold complex regional pain syndromes: differences beyond skin temperature?

    abstract:OBJECTIVE:To investigate clinical differences in warm and cold complex regional pain syndrome (CRPS) phenotypes. BACKGROUND:CRPS represents inhomogeneous chronic pain conditions; approximately 70% patients with CRPS have "warm" affected limbs and 30% have "cold" affected limbs. METHODS:We examined 50 patients with "c...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000341930.35494.66

    authors: Eberle T,Doganci B,Krämer HH,Geber C,Fechir M,Magerl W,Birklein F

    更新日期:2009-02-10 00:00:00

  • Blood-brain barrier disruption is associated with increased mortality after endovascular therapy.

    abstract:OBJECTIVE:To evaluate the incidence, baseline characteristics, and clinical prognosis of blood-brain barrier (BBB) disruption after endovascular therapy in acute ischemic stroke patients. METHODS:A total of 220 patients treated with endovascular therapy between April 2007 and October 2011 were identified from a prospe...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31828406de

    authors: Desilles JP,Rouchaud A,Labreuche J,Meseguer E,Laissy JP,Serfaty JM,Lapergue B,Klein IF,Guidoux C,Cabrejo L,Sirimarco G,Lavallée PC,Schouman-Claeys E,Amarenco P,Mazighi M

    更新日期:2013-02-26 00:00:00

  • Prognosis with stroke in Europe: A collaborative study of population-based cohorts. Neurologic Diseases in the Elderly Research Group.

    abstract::The authors pooled four population-based European studies to determine the risk for institutionalization and death after stroke. Risk for institutionalization was assessed in 13,095 subjects. Survival was calculated for prevalent stroke in 7929 individuals and incident stroke in 8550 individuals. The adjusted risk of ...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究

    doi:

    authors: Schmidt R,Breteler MM,Inzitari D,Fratiglioni L,Hofman A,Launer LJ

    更新日期:2000-01-01 00:00:00

  • The utility and generality of Mini-Mental State Examination scores in Alzheimer's disease.

    abstract::The present study sought to evaluate the validity and generality of the Mini-Mental State Examination (MMSE) and its subsection scores. We gave the MMSE and other neuropsychological tests to 51 patients with probable Alzheimer's disease. On the basis of correlational and factor analyses, overall performance on the MMS...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.40.12.1894

    authors: Giordani B,Boivin MJ,Hall AL,Foster NL,Lehtinen SJ,Bluemlein LA,Berent S

    更新日期:1990-12-01 00:00:00

  • Impairment of hand movements under visual guidance.

    abstract::Impairment of object-bound movements of the hand performed under visual guidance ("optic ataxia") was a prominent sign in a patient with bilateral circumscribed infarctions in the posterior watershed territory. The sign was interpreted as resulting from defective integration of panoramic visual information with propri...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.29.2.170

    authors: Damasio AR,Benton AL

    更新日期:1979-02-01 00:00:00

  • Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness.

    abstract::Ullrich disease is a form of congenital muscular dystrophy characterized clinically by generalized muscle weakness, contractures of the proximal joints, and hyperflexibility of the distal joints from birth or early infancy. Recently, mutations of the collagen VI gene have been associated with Ullrich disease. The auth...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.59.6.920

    authors: Ishikawa H,Sugie K,Murayama K,Ito M,Minami N,Nishino I,Nonaka I

    更新日期:2002-09-24 00:00:00

  • Phase II study of monthly pasireotide LAR (SOM230C) for recurrent or progressive meningioma.

    abstract:OBJECTIVE:A subset of meningiomas recur after surgery and radiation therapy, but no medical therapy for recurrent meningioma has proven effective. METHODS:Pasireotide LAR is a long-acting somatostatin analog that may inhibit meningioma growth. This was a phase II trial in patients with histologically confirmed recurre...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000001153

    authors: Norden AD,Ligon KL,Hammond SN,Muzikansky A,Reardon DA,Kaley TJ,Batchelor TT,Plotkin SR,Raizer JJ,Wong ET,Drappatz J,Lesser GJ,Haidar S,Beroukhim R,Lee EQ,Doherty L,Lafrankie D,Gaffey SC,Gerard M,Smith KH,McCluskey

    更新日期:2015-01-20 00:00:00

  • Local cerebral metabolism during partial seizures.

    abstract::Interictal and ictal fluorodeoxyglucose scans were obtained with positron CT from four patients with spontaneous recurrent partial seizures, one with epilepsia partialis continua, and one with a single partial seizure induced by electrical stimulation of the hippocampus. Ictal metabolic patterns were different for eac...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.33.4.400

    authors: Engel J Jr,Kuhl DE,Phelps ME,Rausch R,Nuwer M

    更新日期:1983-04-01 00:00:00

  • Diffuse cerebral vasoconstriction (Call-Fleming syndrome) and stroke associated with antidepressants.

    abstract::Call-Fleming syndrome is a reversible segmental vasoconstriction of cerebral arteries manifested by a "thunderclap" headache and focal neurologic symptoms. Although of unknown etiology, it has been reported in association with vasoactive sympathomimetic drugs. The authors report Call-Fleming syndrome in two patients w...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000223648.76430.27

    authors: Noskin O,Jafarimojarrad E,Libman RB,Nelson JL

    更新日期:2006-07-11 00:00:00

  • Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q).

    abstract::We made phenotypic analysis of 14 families with spinal muscular atrophy (SMA) linking to chromosome 5q11.2-13.3 (SMA 5q), and 2 that may not map to this locus, to assess clinical symptoms among SMA families known to result from mutation at the identical gene/locus. Although the current number of families is still smal...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.40.12.1831

    authors: Munsat TL,Skerry L,Korf B,Pober B,Schapira Y,Gascon GG,al-Rajeh SM,Dubowitz V,Davies K,Brzustowicz LM

    更新日期:1990-12-01 00:00:00

  • Natalizumab reduces visual loss in patients with relapsing multiple sclerosis.

    abstract:OBJECTIVE:To examine the effects of natalizumab on low-contrast letter acuity as a prespecified tertiary endpoint in two randomized clinical trials and to evaluate the usefulness of low-contrast letter acuity testing as a candidate test of visual function in multiple sclerosis (MS). METHODS:AFFIRM and SENTINEL were ra...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1212/01.wnl.0000259521.14704.a8

    authors: Balcer LJ,Galetta SL,Calabresi PA,Confavreux C,Giovannoni G,Havrdova E,Hutchinson M,Kappos L,Lublin FD,Miller DH,O'Connor PW,Phillips JT,Polman CH,Radue EW,Rudick RA,Stuart WH,Wajgt A,Weinstock-Guttman B,Wynn DR,Lyn

    更新日期:2007-04-17 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...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/wnl.41.8.1173

    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

  • Chronic headache: New advances in treatment strategies.

    abstract::Chronic daily headache (CDH) affects approximately 4 to 5% of the population and encompasses a number of different diagnoses, including transformed migraine, chronic tension-type headache (TTH), new-onset daily persistent headache, and hemicrania continua. Although the pathophysiology of CDH is still poorly understood...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/wnl.59.5_suppl_2.s8

    authors: Lake AE 3rd,Saper JR

    更新日期:2002-09-10 00:00:00

  • Effects of valproic acid in cultured mammalian neurons.

    abstract::Valproic acid (VPA) has been postulated to exert its anticonvulsant effects by interaction with the postsynaptic GABA receptor. To test that hypothesis, we applied VPA in clinically appropriate concentrations to cortical neurons in dissociated cell culture. VPA did not enhance the postsynaptic effect of GABA, but did ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.36.2.259

    authors: Buchhalter JR,Dichter MA

    更新日期:1986-02-01 00:00:00

  • Effect of a CYP2D6 polymorphism on the efficacy of donepezil in patients with Alzheimer disease.

    abstract:OBJECTIVE:To evaluate the influence of the single nucleotide polymorphism rs1080985 in the cytochrome P450 2D6 (CYP2D6) gene on the efficacy of donepezil in patients with mild to moderate Alzheimer disease (AD). METHODS:This was a multicenter, prospective cohort study of 127 white patients with AD according to the Nat...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1212/WNL.0b013e3181b6bbe3

    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

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

    abstract::Cytolytic T lymphocyte precursors (CTL-p) and natural killer precursors (NK-p) in the CSF of 15 MS patients and 11 patients with other neurologic disorders (OND) were quantitatively assessed, using a T-lymphocyte microculture system that allows clonal expansion of all human T cells. CSF CTL-p and NK-p frequencies were...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.37.3.419

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

    更新日期:1987-03-01 00:00:00

  • Repetitive transcranial magnetic stimulation of the motor cortex ameliorates spasticity in multiple sclerosis.

    abstract:OBJECTIVE:To investigate whether repetitive transcranial magnetic stimulation (rTMS) can modify spasticity. METHODS:We used high-frequency (5 Hz) and low-frequency (1 Hz) rTMS protocols in 19 remitting patients with relapsing-remitting multiple sclerosis and lower limb spasticity. RESULTS:A single session of 1 Hz rTM...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章

    doi:10.1212/01.wnl.0000257818.16952.62

    authors: Centonze D,Koch G,Versace V,Mori F,Rossi S,Brusa L,Grossi K,Torelli F,Prosperetti C,Cervellino A,Marfia GA,Stanzione P,Marciani MG,Boffa L,Bernardi G

    更新日期:2007-03-27 00:00:00