Abstract:
:Progranulin (GRN) mutations are associated with different clinical phenotypes, including Frontotemporal Lobar Degeneration (FTLD), Corticobasal Degeneration and Alzheimer's disease (AD). In addition, the range of age at onset is very wide and patients presenting initial symptoms around eighty years have been described. Previous studies demonstrated that progranulin plasma levels determination may be a reliable method to identify GRN deletion carriers. We thus evaluated progranulin plasma levels in all patients followed at our Alzheimer's Centre whose plasma was available (n=176) and found four patients displaying low values. Three of them carried the CACT deletion in exon 7 and their clinical diagnosis was behavioral variant Frontotemporal Dementia. We also identified a patient carrying a previously reported CAGT deletion in exon 5. Here, we report on this case. The onset of symptoms was at 77 years and the initial diagnosis was of amnestic Mild Cognitive Impairment (aMCI), which converted to AD six months later. In the following years, the patient also developed behavioral disturbances, gait apraxia and parkinsonian symptoms. At present, she is 84 years old and is still followed-up periodically. This case confirms progranulin plasma levels as a reliable biomarker to identify GRN deletion carriers and discriminate between FTLD and other dementias which may mimic it. We thus encourage the inclusion of this non-invasive and easy test in clinical practice.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Carecchio M,Fenoglio C,De Riz M,Guidi I,Comi C,Cortini F,Venturelli E,Restelli I,Cantoni C,Bresolin N,Monaco F,Scarpini E,Galimberti Ddoi
10.1016/j.jns.2009.07.011subject
Has Abstractpub_date
2009-12-15 00:00:00pages
291-3issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(09)00706-0journal_volume
287pub_type
杂志文章abstract::We examined the characteristic clinical features of one family of familial amyotrophic lateral sclerosis (FALS) with a His46Arg mutation in the enzyme Cu/Zn superoxide dismutase-1 (SOD1). The disease duration for this family was 18.1 +/- 13.2 (mean +/- S.D.) years, with the age at onset being 39.7 +/- 10.5 years old (...
journal_title:Journal of the neurological sciences
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更新日期:2020-09-15 00:00:00
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
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doi:10.1016/j.jns.2008.02.011
更新日期:2008-07-15 00:00:00
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
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更新日期:2013-07-15 00:00:00
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pub_type: 杂志文章
doi:10.1016/0022-510x(94)90278-x
更新日期:1994-11-01 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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journal_title:Journal of the neurological sciences
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doi:10.1016/j.jns.2011.10.008
更新日期:2012-03-15 00:00:00
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journal_title:Journal of the neurological sciences
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doi:10.1016/s0022-510x(00)00464-0
更新日期:2001-01-01 00:00:00
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journal_title:Journal of the neurological sciences
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doi:10.1016/0022-510x(83)90051-5
更新日期:1983-09-01 00:00:00
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journal_title:Journal of the neurological sciences
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更新日期:1993-03-01 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(88)90206-7
更新日期:1988-12-01 00:00:00
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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
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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.2013.03.014
更新日期:2013-06-15 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:1993-07-01 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:1983-08-01 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:1996-03-01 00:00:00
abstract::Idiopathic Parkinson's disease (PD) may possibly be caused by one or more unidentified neurotoxins present in the environment, or formed endogenously, which progressively damage dopaminergic nigrostriatal neurons. N-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) is an experimental neurotoxin which produces biochemi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(87)90106-7
更新日期:1987-11-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2014.09.015
更新日期:2014-11-15 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.2015.02.002
更新日期:2015-03-15 00:00:00
abstract:BACKGROUND:Repeated administration of Paced Auditory Serial Addition Test (PASAT) results in a considerable learning effect in short- or long-term follow-up studies. However, the relationship between PASAT learning and changes in magnetic resonance imaging (MRI) parameters is yet to be investigated. OBJECTIVES:The aim...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.10.002
更新日期:2014-12-15 00:00:00
abstract::Laryngeal stridor is recognized as a characteristic clinical manifestation in patients with multiple system atrophy (MSA). However, the pathogenic mechanisms underlying this symptom are controversial. Neurogenic atrophy of the posterior cricoarytenoid muscle has been identified in cases of MSA, suggesting that larynge...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2016.01.007
更新日期:2016-02-15 00:00:00