Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies

Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies

The C9orf72 genetic mutation is the most common cause of familial frontotemporal dementia (FTD) and motor neuron disease (MND). Previous family studies suggest that while some common clinical features may distinguish gene carriers from sporadic patients, the clinical features, age of onset and disea...

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Bibliographic Details
Main Authors: David Foxe, Elle Elan, James R. Burrell, Felicity V. C. Leslie, Emma Devenney, John B. Kwok, Glenda M. Halliday, John R. Hodges, Olivier Piguet
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-09-01
Series:Frontiers in Psychology
Subjects:
slowly progressive dementia
frontotemporal dementia
motor neuron disease
clinical case study
C9orf72
genetics
Online Access:https://www.frontiersin.org/article/10.3389/fpsyg.2018.01615/full

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