Younkin, Steven G

Publication Detail

The publication detail shows the title, authors (with indicators showing other profiled authors), information on the publishing organization, abstract and a link to the article in PubMed. This abstract is what is used to create the fingerprint of the publication. If any grants are referenced by the publication, they will be listed here as well.

Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin.

E McDade; B F Boeve; T M Burrus; B P Boot; K Kantarci; J Fields; V J Lowe; P Peller; D Knopman; M Baker; et al. (Profiled Author: Knopman, David S)

Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Neurology 2012;78(16):1245-9.

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.

1 Originating Grant

• 1.

  PETERSEN, RONALD C

  Mayo Alzheimer's Disease Research Center

  1 May 1999 - 30 April 2014

  NATIONAL INSTITUTE ON AGING

  Total Funding: $ 25,743,859

Scientific Context

This section shows information related to the publication - computed using the fingerprint of the publication - including related publications, related experts and related grants with fingerprints representing significant amounts of overlap between their fingerprint and this publication. The red dots indicate whether those experts or terms appear within the publication, thereby showing potential and actual connections.