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P4–115: Frontotemporal degeneration with ubiquinated inclusions: A case report of a family with corticobasal syndrome and prominent parietal degeneration
Author(s) -
Qadi Najeeb,
Mackenzie Ian R.A.,
Dwosh Emily S.,
Feldman Howard H.
Publication year - 2006
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2006.05.1854
Subject(s) - corticobasal degeneration , frontotemporal lobar degeneration , frontotemporal dementia , psychology , apraxia , pathology , pick's disease , atrophy , temporal lobe , dementia , aphasia , semantic dementia , neuroscience , medicine , disease , progressive supranuclear palsy , epilepsy
years after onset of symptoms. His mother developed early-onset dementia and was in full-time care from the age of 54, and a sister of the proband was diagnosed with frontotemporal dementia at the age of 59. A cerebral CT scan of the proband showed frontotemporal and central atrophy, and a PET scan showed frontal, temporal and parietal hypoperfusion. MMSE score at referral was 24/30. Neuropsychological examination revealed massive impairment of frontal and temporoparietal functions. Direct DNA sequencing of exon 6 of the CHMP2B gene showed that the patient had the characteristic G-to-C transition which has previously been described in the FTD3 family. In the previously reported FTD3 family, seven asymptomatic at risk individuals have been tested after genetic counselling and the mutation has been found in one of these individuals. Conclusions: We present recent findings in FTD3, including the detection of the mutation in a patient with no known relation to the previously reported FTD3 family. Most likely, the patient represents a previously unknown branch of the family.