2012
DOI: 10.1212/wnl.0b013e318251594c
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Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin

Abstract: Objective: To report the phenotypic characterization of monozygotic twins with mutations encoding progranulin (PGRN). Methods:We studied a twin pair with an exon 4 gene deletion in the PGRN gene. Both twins had clinical and neuropsychological examinations as well as structural MRI and fluorodeoxyglucose PET (FDG-PET) scans. PGRN gene sequencing was performed followed by progranulin ELISA in plasma.Results: Both twins manifested symptoms within 3 years of each other, with early behavioral, language, dysexecutiv… Show more

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Cited by 16 publications
(11 citation statements)
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“…In particular, a study in monozygotic twins carrying a 4-bp deletion (c.388_391delCAGT) in exon 4 of GRN reported strong clinical, neuroimaging, and serum progranulin level similarities, demonstrating the importance of shared genetic profiles beyond environmental influences in the symptomatic expression of the disease [82]. In a recent case report, brain FDG PET demonstrated mild hypometabolism involving the medial frontal and lateral temporal lobes, the left more than the right, which progressed over time.…”
Section: Genetics Of Ftdmentioning
confidence: 99%
See 1 more Smart Citation
“…In particular, a study in monozygotic twins carrying a 4-bp deletion (c.388_391delCAGT) in exon 4 of GRN reported strong clinical, neuroimaging, and serum progranulin level similarities, demonstrating the importance of shared genetic profiles beyond environmental influences in the symptomatic expression of the disease [82]. In a recent case report, brain FDG PET demonstrated mild hypometabolism involving the medial frontal and lateral temporal lobes, the left more than the right, which progressed over time.…”
Section: Genetics Of Ftdmentioning
confidence: 99%
“…There also exist phenotypic characterizations of FTD linked to the mutations in GRN and C9orf72 and in which an important contribution is made by neuroimaging [82]. In particular, a study in monozygotic twins carrying a 4-bp deletion (c.388_391delCAGT) in exon 4 of GRN reported strong clinical, neuroimaging, and serum progranulin level similarities, demonstrating the importance of shared genetic profiles beyond environmental influences in the symptomatic expression of the disease [82].…”
Section: Genetics Of Ftdmentioning
confidence: 99%
“…This may have introduced biases due to genetic discordances beyond the GRN gene mutation with effects on cerebral glucose metabolism. 30 The finding of carrier/ noncarrier differences in members from a single family, however, reduces the likelihood of these. Limitations also include the use of parametric methods (ANCOVA) we had to resort to because of a significant sex imbalance between our groups: the predominance of women in our mutation carrier and men in our noncarrier group represented a serious risk of Type II error because of the normal tendency for women to have higher glucose metabolic rates globally and in ventral and medial regions of the frontal lobe, of direct interest in the current study.…”
Section: 56mentioning
confidence: 99%
“…This concept, defined as molecular nexopathies, hypothesized that GRN mutations cause a specific and preferential involvement of long intrahemispheric tracts between target networks and off-target pathways (i.e., temporoparietal regions). More research is needed to bridge the gap between molecular aspects of FTLD and the neuropathologic alterations driving the clinical and radiologic presentation (39,40). Large international initiatives with multimodal imaging techniques with high-level statistical tools are required to confirm and extend the field of the molecular nexopathies.…”
Section: Discussionmentioning
confidence: 99%