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, dysexecutive, and memory problems. MRI and FDG-PET imaging demonstrated a strikingly similar topography of findings with clear left hemisphere predominance. Serum progranulin levels in both were well below those from a normal population sample.

Conclusions

Compared wi

SUBMITTER: McDade E 

PROVIDER: S-EPMC3324318 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature