Lashley, T;
Rohrer, JD;
Mahoney, C;
Gordon, E;
Beck, J;
Mead, S;
Warren, J;
... Revesz, T; + view all
(2013)
A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.
Neuropathology and Applied Neurobiology
, 40
(4)
pp. 502-513.
10.1111/nan.12100.
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Abstract
Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disease and is the second most common form of young onset dementia after Alzheimer's disease (AD). An autosomal dominant pattern of inheritance is present in around 25-50% of FTLD cases indicating a strong genetic component. Major pathogenic mutations of FTLD have been demonstrated independently in the progranulin (GRN) gene and the C9orf72 hexanucleotide expansion repeat. In this study we present a family that have been identified as carrying both a GRN Cys31fs mutation and the C9orf72 hexanucleotide expansion repeat.
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