TY - JOUR
T1 - Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin
AU - McDade, E.
AU - Boeve, B. F.
AU - Burrus, T. M.
AU - Boot, B. P.
AU - Kantarci, K.
AU - Fields, J.
AU - Lowe, V. J.
AU - Peller, P.
AU - Knopman, D.
AU - Baker, M.
AU - Finch, N.
AU - Rademakers, R.
AU - Petersen, R.
N1 - Funding Information:
Study funding: Supported by grants P50-AG016574 and R01-AG011378 and the Robert H. and Clarice Smith and Abigail Van Buren Alzheimer's Disease Research Program of the Mayo Foundation.
PY - 2012/4/17
Y1 - 2012/4/17
N2 - 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 with the heterogeneity seen in many families with PGRN mutations, these monozygotic twins demonstrated 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.
AB - 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 with the heterogeneity seen in many families with PGRN mutations, these monozygotic twins demonstrated 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.
UR - http://www.scopus.com/inward/record.url?scp=84860719745&partnerID=8YFLogxK
U2 - 10.1212/WNL.0b013e318251594c
DO - 10.1212/WNL.0b013e318251594c
M3 - Article
C2 - 22491866
AN - SCOPUS:84860719745
SN - 0028-3878
VL - 78
SP - 1245
EP - 1249
JO - Neurology
JF - Neurology
IS - 16
ER -