Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration

Ghidoni, Roberta; Benussi, Luisa; Glionna, Michela; Franzoni, Mayara Simão; Binetti, Giuliano

doi:10.1212/01.wnl.0000325058.10218.fc

Cited by 284 publications

(212 citation statements)

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“…Results described here further confirm the usefulness of plasma progranulin level evaluation to easily detect carriers of GRN deletions, with a sensitivity and specificity of 100%, in accordance with previous findings [4][5][6]. Moreover, we found a patient carrying a deletion in GRN exon 5 whose clinical onset was characterized by memory deficits and was initially diagnosed with aMCI and few months later with probable AD.…”

Section: Discussionsupporting

confidence: 91%

“…As expected, no mutations were found in these subjects. Therefore, using the cut-off previously proposed by Ghidoni et al [4], in accordance with their results, we had a sensitivity (defined as: real carriers/total carriers identified through the test) and specificity (real non-carriers/ total non-carriers identified through the test) of 100%, supporting the usefulness of the test.…”

Section: Results and Clinical Case Descriptionsupporting

confidence: 86%

“…Four patients showed progranulin plasma levels lower than the normality reference values previously proposed [4] with a mean value of 36.24 ± 12.55 ng/ml (Fig. 1).…”

Section: Results and Clinical Case Descriptionmentioning

confidence: 60%

“…Plasma progranulin levels in patients clinically diagnosed with AD (n = 75) or bvFTD (n = 45) and in subjects with MCI or subjective memory complaints (n = 56). The black line represents the threshold value previously proposed [4]. the patient's old age at onset, suggests an incomplete penetrance of the mutation identified.…”

Section: Discussionmentioning

confidence: 87%

“…Recently, it has been repeatedly demonstrated that carriers of deletions in GRN display very low plasma progranulin levels as compared with non-carriers [4][5][6]. As this assessment is non-invasive and easy to perform, it may be a reliable method to identify progranulin deletion carriers without sequencing the whole GRN gene, which is indeed technically more complicated and even more expensive.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

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

Carecchio

Fenoglio

Riz

et al. 2009

Journal of the Neurological Sciences

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Progranulin (GRN) mutations are associated with different clinical phenotypes, including FrontotemporalLobar 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.

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