Neurology · 2012
Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin.
Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАTwin StudyНазвание и аннотация: Перевод пока не подготовлен
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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
Аннотация
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.
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.
Предметные рубрики MeSH
BrainDominance, CerebralExonsFluorodeoxyglucose F18Frontotemporal DementiaGene DeletionGenetic Predisposition to DiseaseHumansIntercellular Signaling Peptides and ProteinsMagnetic Resonance ImagingMaleMiddle AgedNeuroimagingNeuropsychological TestsPhenotypePositron-Emission TomographyProgranulinsRadiopharmaceuticalsTwins, Monozygotic