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CADASIL in monozygotic twins
Author(s) -
Kalimo H.,
Viitanen M.,
Carlström C.,
Nordberg A.,
Bronge L.
Publication year - 2002
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1046/j.1365-2990.2002.39286_9.x
Subject(s) - cadasil , hyperintensity , monozygotic twin , anticipation (artificial intelligence) , medicine , basal ganglia , magnetic resonance imaging , psychology , pathology , cardiology , radiology , leukoencephalopathy , biology , central nervous system , genetics , artificial intelligence , computer science
The cause of the highly variable clinical course in CADASIL is unknown, independent of the type of mutation. Patients and clinical findings: The age of onset in the mother of monozygotic twins was 70 years. At 73 years MMSE was 22 with impairment of executive functions. T2w MRI showed grade D hyperintensities and T1w MRI infarcts in basal ganglia. She died at 73 years. Her geminus‐B twin son had first symptoms at 39 years, 30 years earlier than his mother. At 47 years he scored 29 in MMSE. T2w MRI disclosed grade C hyperintensities and T1w MRI infarcts in basal ganglia. Detection of GOM in dermal arteries established CADASIL diagnosis. The A twin is subjectively healthy at 48 years with MMSE 30. His T2w MRI showed grade B hyperintensities, but no infarcts in T1w MRI. In PET, the B twin's CBF was more markedly diminished than that of the A twin. Conclusion: The clinical course in CADASIL can vary markedly despite the same gene defect or even identical genome. No anticipation or gender difference has been reported. The B twin is a smoker. Elucidation of reasons for the variation may reveal important pathogenetic factors.