Abstract:
OBJECTIVE:To explore the role of cardiovascular risk factors and the different NOTCH-3 mutations to explain the variability observed in the clinical presentation of CADASIL. METHODS:This was a retrospective cohort study of 331 individuals, 90 were carriers of four mutations in the NOTCH3 gene. These four mutations are the ones identified in our region from the genetic evaluation of probands. Cox proportional hazards models were fitted to estimate the effect of genetic and cardiovascular factors on the onset of migraine, first stroke, and dementia. Competing risk regression models considered death as risk. RESULTS:Noncarriers (healthy controls from the same families without NOTCH3 mutations) and NOTCH3 mutation carriers had similar frequencies for all cardiovascular risk factors. Diabetes (SHR 2.74, 95% CI 1.52-4.94) was associated with a younger age at onset of strokes among carriers. Additionally, a genotype-phenotype relationship was observed among C455R mutation carriers, with higher frequency of migraines (100%), younger age at onset of migraine (median age 7 years, IQR 8) and strokes (median age 30.5 years, IQR 26). Moreover, fewer carriers of the R141C mutation exhibited migraines (20%), and it was even lower than the frequency observed in the noncarrier group (44.8%). CONCLUSIONS:This study characterizes extended family groups, allowing us a comparison in the genotype-phenotype. The results suggest a complex interplay of genetic and cardiovascular risk factors that may help explain the variability in the clinical presentation and severity of CADASIL.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Ospina C,Arboleda-Velasquez JF,Aguirre-Acevedo DC,Zuluaga-Castaño Y,Velilla L,Garcia GP,Quiroz YT,Lopera Fdoi
10.1016/j.jns.2020.117178subject
Has Abstractpub_date
2020-12-15 00:00:00pages
117178eissn
0022-510Xissn
1878-5883pii
S0022-510X(20)30514-1journal_volume
419pub_type
杂志文章abstract::A single micro-injection of Tumour Necrosis Factor alpha (TNF) or gamma Interferon (IFN-gamma) into the lumbosacral spinal cord of the rat produced meningitis and mononuclear cuffs within the cord, an inflammatory response remarkably similar in pattern to that observed during experimental autoimmune encephalomyelitis ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(90)90010-k
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abstract::Though the etiology of Parkinson's disease (PD) is unresolved and may be heterogeneous involving both environmental and genetic factors, there are indications that oxidative stress plays an important role in dopaminergic neuronal death. And, it has been reported that inhibition of nitric oxide synthase (NOS) can preve...
journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
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abstract::The effects of synergist tenotomy have been studied on rat soleus muscles after denervation and after interference with sciatic axoplasmic flow with colchicine. The results suggest that neural, as well as muscular, factors cause compensatory hypertrophy (CH) of soleus. The myogenic factor may be mild depolarization of...
journal_title:Journal of the neurological sciences
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doi:10.1016/0022-510x(80)90166-5
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.10.017
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abstract::Arteriolosclerotic leucoencephalopathy in the elderly (ALE) is characterized by white matter lesions associated with atherosclerosis and arteriolosclerosis. Mild lesions are focal and probably represent early status cribosus or incomplete lacunar infarcts. Moderate and severe lesions are diffuse areas of demyelination...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(90)90180-u
更新日期:1990-08-01 00:00:00
abstract::A sensitive enzyme immunoassay (EIA) micromethod is described which can measure levels of a 14 kDa human brain lectin (HBL) in the cerebrospinal fluid (CSF) of patients submitted to CSF examination. The assay is based on the use of a polyclonal antibody to HBL and the simultaneous application of biotinylated and unlab...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(91)90110-s
更新日期:1991-09-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(93)90083-b
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(96)00189-x
更新日期:1996-12-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.01.022
更新日期:2015-02-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(85)90039-5
更新日期:1985-11-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:1987-08-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
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更新日期:2004-08-15 00:00:00
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更新日期:2021-01-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90075-2
更新日期:1994-12-20 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.03.020
更新日期:2011-06-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(89)90024-5
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
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journal_title:Journal of the neurological sciences
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pub_type: 杂志文章,评审
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.09.009
更新日期:2008-03-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(96)00197-9
更新日期:1996-11-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
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更新日期:1992-02-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:2020-08-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.08.027
更新日期:2013-12-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(91)90195-d
更新日期:1991-11-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(87)90275-9
更新日期:1987-06-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jns.2017.05.018
更新日期:2017-07-15 00:00:00
abstract::Thirteen months after castration of male rats the weight of their soleus muscles was lowered to 82% and their choline acetyltransferase (ChAc) activity to 83% of control values. The administration of testosterone lasting 5 weeks increased the weight of the soleus muscles of castrated animals by 19% and their ChAc acti...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(76)90008-3
更新日期:1976-03-01 00:00:00