학술논문
Case report: coexistence of C9orf72 expansion and progranulin mutation in a case of genetic frontotemporal dementia—clinical features and neuroimaging correlates.
Document Type
Case Study
Author
Source
Subject
*FRONTOTEMPORAL dementia
*SPEECH apraxia
*FRONTOTEMPORAL lobar degeneration
*PROGRANULIN
*GENETIC mutation
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Language
ISSN
0340-5354
Abstract
Atrophy at the level of the dentate in I GRN i patients emerged also in comparison with I C9orf72 i patients (left dentate I p i = 0.019, right dentate I p i = 0.030). Indeed, in our cohort, I C9orf72 i patients showed quite symmetric bilateral frontotemporal involvement, while I GRN i patients presented a more lateralized left-sided pattern of atrophy. At the level of subcortical nuclei, the index patient showed a pattern of subcortical atrophy of the bilateral caudate, right hippocampus, and bilateral thalamus compared to controls, which was similar to that expressed by I C9orf72 i patients (left caudate and bilateral thalamus) and I GRN i patients (bilateral dentate and bilateral thalamus). I GRN i patients, instead, develop more frequently PPA, accompanied by severe brain atrophy, which is remarkably asymmetric and early involves parietal lobes [[5]] A few cases of patients with double FTLD-related mutations have been described, highlighting the necessity for full genetic screening in each individual case [[6]-[8]]. [Extracted from the article]