Article
Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin.
Neurology - 17 Apr 2012
McDade E, Boeve B F, Burrus T M, Boot B P, Kantarci K, Fields J, Lowe V J, Peller P, Knopman D, Baker M, Finch N, Rademakers R, Petersen R
Abstract excerpt
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...
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