Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease

Autor: Chiara Fenoglio, Daniela Galimberti, Ilaria Restelli, Francesco Monaco, Cristoforo Comi, Miryam Carecchio, Elio Scarpini, Claudia Cantoni, Milena De Riz, Eliana Venturelli, Francesca Cortini, Ilaria Guidi, Nereo Bresolin
Rok vydání: 2009
Předmět:
Genetic Markers
Oncology
Mild Cognitive Impairment
Progranulin
medicine.medical_specialty
Pathology
Sensitivity and Specificity
Diagnosis
Differential
Central nervous system disease
Progranulins
Degenerative disease
Alzheimer Disease
Predictive Value of Tests
Internal medicine
Clinical phenotype
Diagnosis
mental disorders
Neurologic
medicine
Humans
Corticobasal degeneration
Gait Disorders
Gait Disorders
Neurologic
Aged
Brain Chemistry
Genetic Carrier Screening
Mental Disorders
Cognitive disorder
Alzheimer's disease
Frontotemporal Lobar Degeneration
Mutation
Biomarkers
Brain
Cognition Disorders
Disease Progression
Female
Intercellular Signaling Peptides and Proteins
Parkinson Disease
Gene Deletion
Frontotemporal lobar degeneration
medicine.disease
Neurology
Differential
Biomarker (medicine)
Neurology (clinical)
Psychology
Frontotemporal dementia
Zdroj: Journal of the Neurological Sciences. 287:291-293
ISSN: 0022-510X
DOI: 10.1016/j.jns.2009.07.011
Popis: 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.
Databáze: OpenAIRE
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