当前位置： SCI文献检索 > JOURNAL OF THE NEUROLOGICAL SCIENCES期刊下所有文献 > Occurrence of multiple Cerebral Cavernous Malformations in a patient with Neurofibromatosis type 1.

Occurrence of multiple Cerebral Cavernous Malformations in a patient with Neurofibromatosis type 1.

Abstract：

BACKGROUND:Neurofibromatosis 1 (NF1) belongs to the autosomal dominant neurocutaneous disorders' group, which mainly includes NF1 and NF2, tuberous sclerosis, von Hippel-Lindau disease and Cerebral Cavernous Malformations (CCMs). NF1 has a major impact on the nervous system, eye, skin, bone or cardiovascular system. Cerebrovascular lesions have been reported in NF1 including aneurysm, pseudoaneurysm, arteriovenous malformations, vascular stenosis or occlusion and Moya moya syndrome. OBJECTIVE:To report a case of an NF1 patient with multiple CCMs. OBSERVATION:A 47-year-old man with café-au-lait skin lesions, countless cutaneous neurofibromas, short stature and scoliosis was admitted for progressive spinal cord compression due to histologically proven neurofibroma. Systematic cerebral MRI screening including gradient echo sequences showed multiple asymptomatic CCMs. Screening of CCM1, CCM2 and CCM3 genes was negative while a deleterious frameshift mutation was identified in NF1 gene. CONCLUSION:While single CCM can occur in NF1 patients following radiation exposure, they are only rarely reported in non-irradiated NF1 brain. Even if it could be a fortuitous association, plausible links and explanations exist. If cerebral MRI can be systematic in NF1 to detect asymptomatic gliomas, used protocols in neuroradiology do not usually include gradient echo sequences, the most sensitive test for CCM detection, leading possibly to failure to detect these vascular lesions. More reports having this combination and further investigations of NF1 families will certainly provide a better understanding of links between these 2 phakomatoses, as recently reported with "multiple meningiomas" phenotype associated with multiple CCMs in patients with CCM3 gene mutations or café-au-lait skin lesions in CCM1 mutation carriers.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Rerat K,Parker F,Nasser G,Vidaud D,Riant F,Tournier-Lasserve E,Denier C

doi

10.1016/j.jns.2015.02.023

subject

Has Abstract

pub_date

2015-03-15 00:00:00

pages

98-100

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(15)00090-8

journal_volume

350

pub_type

杂志文章

相关文献

JOURNAL OF THE NEUROLOGICAL SCIENCES文献大全
  • The salt stimulation property of serum paraoxonase (PON1) could be a valuable factor in evaluating the enzyme status in ischemic stroke: the role of activity-determined PON1 192Q/R phenotypes.

    abstract：:Variability in the activity and function of serum paraoxonase (PON1) as an antioxidant enzyme involved in vascular disease has been observed. In this study, we investigated the enzyme activity parameters, based on the 192Q/R polymorphism, using the salt stimulation property of PON1 as an important although neglected p...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2014.01.006

    authors： Mahrooz A,Alizadeh A,Gohari G

    更新日期：2014-03-15 00:00:00

  • Overlap of Guillain-Barre syndrome and Bickerstaff's brainstem encephalitis.

    abstract：:The nosological relationship between Bickerstaff s brainstem encephalitis (BBE) and Guillain-Barre syndrome (GBS) has yet to be clarified. We report results of the autopsy of a patient for whom overlapping BBE and GBS was diagnosed clinically. This and similar cases support the original authors' hypothesis that BBE is...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/s0022-510x(96)00251-1

    authors： Yuki N,Wakabayashi K,Yamada M,Seki K

    更新日期：1997-01-01 00:00:00

  • Incidence and subtypes of dementia in three elderly populations of central Spain.

    abstract：OBJECTIVE:To assess age-, gender, and subtype-specific incidence rates of dementia in three populations in central Spain using data from the Neurological Disorders in Central Spain (NEDICES), a population-based survey of elderly participants. METHODS:Individuals were evaluated at baseline (1994-1995) and at follow-up ...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2007.07.021

    authors： Bermejo-Pareja F,Benito-León J,Vega S,Medrano MJ,Román GC,Neurological Disorders in Central Spain (NEDICES) Study Group.

    更新日期：2008-01-15 00:00:00

  • Novel drug development for amyotrophic lateral sclerosis.

    abstract：:Amyotrophic lateral sclerosis (ALS) has become an increasingly attractive area for the pharmaceutical industry, the most experimentally tractable of the neurodegenerative diseases. Mechanisms underlying cell death in ALS are likely to be important in more common but more complex disorders. Riluzole, the only drug laun...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/s0022-510x(00)00419-6

    authors： Hurko O,Walsh FS

    更新日期：2000-11-01 00:00:00

  • Olfactory identification in amnestic and non-amnestic mild cognitive impairment and its neuropsychological correlates.

    abstract：BACKGROUND:Olfactory identification impairment in amnestic mild cognitive impairment (aMCI) patients is well documented and considered to be caused by underlying Alzheimer's disease (AD) pathology, contrasting with less clear evidence in non-amnestic MCI (naMCI). The aim was to (a) compare the degree of olfactory ident...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2015.01.014

    authors： Vyhnalek M,Magerova H,Andel R,Nikolai T,Kadlecova A,Laczo J,Hort J

    更新日期：2015-02-15 00:00:00

  • Autoantibodies to acetylcholinesterase revisited.

    abstract：:A sensitive and specific enzyme linked immunosorbent assay (ELISA) utilizing human recombinant acetylcholinesterase has been employed for the detection of human antibodies to human acetylcholinesterase. The method can detect allogenic antibodies to the Yt(a) form of human erythrocyte AChE. Adaptation of this ELISA met...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/s0022-510x(00)00304-x

    authors： Geen J,Hadjikoutis S,Strachan A,Hullin DA,Hogg SI,Wiles CM

    更新日期：2000-05-01 00:00:00

  • A single report of hemiplegic arm stretching related to yawning: further investigation using apomorphine administration.

    abstract：:We observed a stroke patient with an infarct of the internal capsule interrupting the pyramidal tract who stretched his hemiplegic arm during spontaneous and apomorphine-induced yawning. The putative mechanism by which yawning can induce the paradoxical motor response of the plegic arm in the patient might be the func...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(94)90278-x

    authors： Blin O,Rascol O,Azulay JP,Serratrice G,Nieoullon A

    更新日期：1994-11-01 00:00:00

  • Direct and indirect cost burden associated with multiple sclerosis relapses: excess costs of persons with MS and their spouse caregivers.

    abstract：BACKGROUND:MS relapses are unpredictable and can be concerning to patients and their caregivers. OBJECTIVE:To assess the direct and indirect cost burden associated with relapses of different severities in MS patients and with MS relapse frequency on spouse caregivers. METHODS:Using a U.S. insurance claims and employe...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2013.04.007

    authors： Parisé H,Laliberté F,Lefebvre P,Duh MS,Kim E,Agashivala N,Abouzaid S,Weinstock-Guttman B

    更新日期：2013-07-15 00:00:00

  • A new diagnostic procedure to detect unknown transthyretin (TTR) mutations in familial amyloidotic polyneuropathy (FAP).

    abstract：:Two patients with amyloidosis caused by transthyretin (TTR) were investigated by immunohistopathologic, mass spectrometric, and molecular genetic methods. After confirming the immunoreactivity of TTR in the amyloid deposits using anti-TTR polyclonal antibody, a new method: centrifugal concentration and electrospray io...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/s0022-510x(99)00326-3

    authors： Yamashita T,Ando Y,Bernt Suhr O,Nakamura M,Sakashita N,Ohlsson PI,Terazaki H,Obayashi K,Uchino M,Ando M

    更新日期：2000-02-15 00:00:00

  • Signaling pathway for radiation-induced apoptosis in the lymphoblasts from neuronopathic (type A) and non-neuronopathic (type B) forms of Niemann-Pick disease.

    abstract：:Deficient activity of human lysosomal hydrolase, acid sphingomyelinase (ASM), results in the neuronopathic (type A) and non-neuronopathic (type B) forms of Niemann-Pick disease (NPD). A deficiency of ASM is known to deprive lymphoblasts of their response to apoptotic induction by X-ray irradiation. To elucidate the ge...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/s0022-510x(02)00106-5

    authors： Mikami T,Takahashi T,Ishida A,Minamiya Y,Ida H,Takada G

    更新日期：2002-07-15 00:00:00

  • Alteration of the maximal activity of the gluconeogenetic enzyme fructose-1,6-diphosphatase of skeletal muscle by cross-reinnervation. A histochemical and biochemical investigation of fatiguability-related aspects.

    abstract：:Fatiguability is a determining characteristic of different muscle fibre types. An important aspect, indirectly related to fatiguability, gluconeogenesis, was investigated by observing fructose-1,6-diphosphatase (FDP) activity in experimental models prepared in rabbits by cross-reinnervation of the fatigue-resistant m....

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(76)90250-1

    authors： Jöbsis AC,Meijer AE,Vloedman AH

    更新日期：1976-11-01 00:00:00

  • Blood pressure variability and outcome after acute intracerebral hemorrhage.

    abstract：:Intracerebral hemorrhage (ICH) is life threatening neurologic event that results in significant rate of morbidity and mortality. Unfortunately, several randomized clinical trials aiming at limiting the hematoma expansion (HE) in the acute phase of ICH have not shown significant effects in improving the functional outc...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/j.jns.2020.116766

    authors： Jafari M,Damani R

    更新日期：2020-06-15 00:00:00

  • Duration of paroxysmal atrial fibrillation in cryptogenic stroke is not associated with stroke severity and early outcomes.

    abstract：:The current definition of paroxysmal atrial fibrillation (PAF) requires an arbitrary cut-off of >30s, but in clinical practice cryptogenic stroke (CS) patients with PAF duration of ≤30s are not usually excluded from anticoagulation therapy. We sought to evaluate the clinical relevance of short-duration (≤30s) PAF in C...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,meta分析,评审

    doi：10.1016/j.jns.2017.03.038

    authors： Liantinioti C,Tympas K,Katsanos AH,Parissis J,Chondrogianni M,Zompola C,Papadimitropoulos G,Ioakeimidis M,Triantafyllou S,Roussopoulou A,Voumvourakis K,Lekakis J,Filippatos G,Stefanis L,Tsivgoulis G

    更新日期：2017-05-15 00:00:00

  • Lower serum levels of selenium, copper, and zinc are related to neuromotor impairments in children with konzo.

    abstract：:We assessed the relationship between key trace elements and neurocognitive and motor impairments observed in konzo, a motor neuron disease associated with cassava cyanogenic exposure in nutritionally challenged African children. Serum concentrations of iron, copper, zinc, selenium, and neurotoxic lead, mercury, mangan...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2015.01.007

    authors： Bumoko GM,Sadiki NH,Rwatambuga A,Kayembe KP,Okitundu DL,Mumba Ngoyi D,Muyembe JJ,Banea JP,Boivin MJ,Tshala-Katumbay D

    更新日期：2015-02-15 00:00:00

  • Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia.

    abstract：:There is significant evidence that the pathogenesis of several neurodegenerative diseases, including Parkinson's disease, Alzheimer's disease, Friedreich's ataxia (FRDA), multiple sclerosis and amyotrophic lateral sclerosis, may involve the generation of reactive oxygen species (ROS) and/or reactive nitrogen species (...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/j.jns.2005.03.012

    authors： Calabrese V,Lodi R,Tonon C,D'Agata V,Sapienza M,Scapagnini G,Mangiameli A,Pennisi G,Stella AM,Butterfield DA

    更新日期：2005-06-15 00:00:00

  • Risk attitude and personality in people with multiple sclerosis facing the choice of different disease-modifying therapy scenarios.

    abstract：BACKGROUND:As available disease-modifying therapies (DMTs) increase, evaluating benefit/risk presents greater difficulties, requiring people with MS (PwMS) to play crucial roles in choosing treatment. Although individual attitude toward risk may predict this evaluation, its relation to personality is little studied in ...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2020.117064

    authors： Minacapelli E,Giordano A,Falautano M,Sangalli F,Pietrolongo E,Lorefice L,Cocco E,Lugaresi A,Comi G,Filippi M,Martinelli V

    更新日期：2020-10-15 00:00:00

  • The production of focal herpes encephalitis in mice by stereotaxic inoculation of virus. Anatomical and behavioral effects.

    abstract：:A low virulence strain of herpes simplex type 1 was microinjected into the hippocampus of BALB/c mice. Intense replication of virus at the inoculum site was followed by spread of viral antigen to the afferent connections of the hippocampus. Surviving animals showed focal damage of limbic structures and specific behavi...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(86)90018-3

    authors： McFarland DJ,Sikora E,Hotchin J

    更新日期：1986-02-01 00:00:00

  • Painful legs and moving toes syndrome associated with herpes zoster myelitis.

    abstract：:A 75-year-old woman developed painful legs and moving toes syndrome (PLMT) 16 months after the onset of herpes zoster (HZ) myelitis. Although the scattered extensive lesions due to HZ myelitis were observed to be eccentric near the posterior horn on MRI, these changes had disappeared upon the development of PLMT. Comb...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2004.01.011

    authors： Ikeda K,Deguchi K,Touge T,Sasaki I,Tsukaguchi M,Shimamura M,Komatsu E,Takeuchi H,Kuriyama S

    更新日期：2004-04-15 00:00:00

  • Sleep structure and nocturnal disordered breathing in familial dysautonomia.

    abstract：:In 13 patients with familial dysautonomia sleep recordings were obtained to investigate the possibility that autonomic nervous system dysfunction plays a role in disordered breathing during sleep. Sleep structure in some of our patients was abnormal, showing decreased amount of REM sleep and increased REM latencies. A...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(83)90131-4

    authors： Gadoth N,Sokol J,Lavie P

    更新日期：1983-07-01 00:00:00

  • Paraneoplastic neurological syndromes in lung cancer patients with or without onconeural antibodies.

    abstract：BACKGROUND:Paraneoplastic neurological syndromes (PNS) are poorly described in patients without onconeural antibodies and in patients with non-small cell lung cancer (NSCLC). We compared the clinical characteristics of PNS in lung cancer patients with and without onconeural antibodies. METHODS:Medical records from pat...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2014.10.040

    authors： Raspotnig M,Vedeler C,Storstein A

    更新日期：2015-01-15 00:00:00

  • Vitamin D deficiency in patients with primary immune-mediated peripheral neuropathies.

    abstract：PURPOSE:T cells are important in the immunopathology of immune-mediated peripheral neuropathies (PNP) and activated vitamin D regulates the immune response through increasing the amount of regulatory T cells. An association between vitamin D deficiency and polyneuropathy has been stipulated; hence we assessed whether p...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2014.07.040

    authors： Elf K,Askmark H,Nygren I,Punga AR

    更新日期：2014-10-15 00:00:00

  • Refractory status epilepticus secondary to CNS vasculitis, a role for epilepsy surgery.

    abstract：:Central nervous system (CNS) vasculitis is a rare group of disorders that affect vessels of the brain parenchyma and meninges. It presents with headache, cognitive changes, or seizures, yet without aggressive management, it carries a high degree of morbidity and mortality. Refractory status epilepticus (SE) has been r...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2011.11.029

    authors： Atkinson M,Atkinson B,Norris G,Shah A

    更新日期：2012-04-15 00:00:00

  • Isolated unilateral oculomotor paresis in pure midbrain stroke.

    abstract：BACKGROUND AND PURPOSE:Pure midbrain stroke can cause isolated unilateral oculomotor paresis. We attempted to determine whether there is a difference in the oculomotor paresis pattern between pure midbrain infarction and midbrain hemorrhage. METHODS:Pure midbrain stroke patients who presented with isolated unilateral ...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2015.03.012

    authors： Amano Y,Kudo Y,Kikyo H,Imazeki R,Yamamoto M,Amari K,Tanaka F,Johkura K

    更新日期：2015-04-15 00:00:00

  • Metabolic effects of scopolamine and physostigmine in human brain measured by positron emission tomography.

    abstract：:Two of the more consistent findings in Alzheimer's disease are depressions in frontal and temporoparietal glucose metabolism and a loss of cholinergic neurons in the nucleus basalis of Meynert. Nonetheless, cholinergic replacement strategies have had only minimal therapeutic successes. Whether this situation reflects ...

    journal_title：Journal of the neurological sciences

    pub_type： 临床试验,杂志文章

    doi：10.1016/0022-510x(94)90202-x

    authors： Blin J,Piercey MF,Giuffra ME,Mouradian MM,Chase TN

    更新日期：1994-05-01 00:00:00

  • Anosmia is associated with lower in-hospital mortality in COVID-19.

    abstract：BACKGROUND:Anosmia is common in Coronavirus disease 2019, but its impact on prognosis is unknown. We analysed whether anosmia predicts in-hospital mortality; and if patients with anosmia have a different clinical presentation, inflammatory response, or disease severity. METHODS:Retrospective cohort study including all...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2020.117163

    authors： Talavera B,García-Azorín D,Martínez-Pías E,Trigo J,Hernández-Pérez I,Valle-Peñacoba G,Simón-Campo P,de Lera M,Chavarría-Miranda A,López-Sanz C,Gutiérrez-Sánchez M,Martínez-Velasco E,Pedraza M,Sierra Á,Gómez-Vicente B,Guerre

    更新日期：2020-12-15 00:00:00

  • [Ultrastructural study of a chordoma].

    abstract：:An ultrastructural study of a case of sacral chordoma is reported. The cell type was monomorphic. The epithelial nature and the secretory function of the tumour cells was obvious in view of their content of desmosomes and the presence of mucopolysaccharide in the ergastoplasm and in the extracellular space. Because of...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(75)90157-4

    authors： Tripler MF,Hassoun J,Toga M

    更新日期：1975-07-01 00:00:00

  • Neurobiology of cue-reactivity, craving, and inhibitory control in non-substance addictive behaviors.

    abstract：:Non-substance addictive behaviors may involve repetitive rewarding behaviors including gambling, gaming, sexual activities, internet-use, and buying-shopping. In addictions, there exists diminished control over participation in the behaviors and continuation of the behaviors despite experiencing negative consequences....

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/j.jns.2020.116952

    authors： Antons S,Brand M,Potenza MN

    更新日期：2020-08-15 00:00:00

  • Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene.

    abstract：:Genetic Creutzfeldt-Jakob disease (gCJD) is caused by a range of mutations in the prion protein gene (PRNP). We describe the first Italian case of gCJD associated with the rare PRNP E196K mutation. The disease showed an atypical presentation featuring dementia without motor signs in a 75-year-old woman. The case lacke...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2008.06.036

    authors： Clerici F,Elia A,Girotti F,Contri P,Mariani C,Tagliavini F,Di Fede G

    更新日期：2008-12-15 00:00:00

  • Combined treatment with LDL-apheresis, chenodeoxycholic acid and HMG-CoA reductase inhibitor for cerebrotendinous xanthomatosis.

    abstract：:The effects of combined treatment with low-density lipoprotein (LDL)-apheresis, chenodeoxycholic acid (CDCA) and 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) reductase inhibitor were studied in 2 patients with cerebrotendinous xanthomatosis. Patient 1 was initially treated with LDL-apheresis alone: serum cholestanol level...

    journal_title：Journal of the neurological sciences

    pub_type： 临床试验,杂志文章

    doi：10.1016/j.jns.2003.07.005

    authors： Ito S,Kuwabara S,Sakakibara R,Oki T,Arai H,Oda S,Hattori T

    更新日期：2003-12-15 00:00:00

  • Clinical applications of quantitative sensory testing (QST).

    abstract：:Quantitative sensory testing (QST) has been used clinically for the last two decades, yielding a substantial number of publications regarding these applications. In this review we tried to amass together the major findings of these publications into one monograph, excluding those dealing with pain. This was done with ...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/s0022-510x(97)00293-1

    authors： Zaslansky R,Yarnitsky D

    更新日期：1998-01-08 00:00:00