C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients
- Dobson-Stone, C.
- Hallupp, M.
- Loy, C.
- Thompson, E.
- Haan, E.
- Sue, C.
- Panegyres, P.
- Razquin, C.
- Seijo-Martinez, M.
- Ramon, R.
- Gascon, J.
- Campdelacreu, J.
- Schmoll, B.
- Volk, A.
- Brooks, W.
- Schofield, P.
- Pastor, P.
- Kwok, J.
DOIAbstract
A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known. The aims of our study were to determine the frequency of the C9ORF72 repeat expansion in two FTD patient collections (one Australian and one Spanish, combined n = 190), to examine C9ORF72 expansion allele length in a subset of FTD patients, and to examine C9ORF72 allele length in ‘non-expansion’ patients (those with <30 repeats). The C9ORF72 repeat expansion was detected in 5–17% of patients (21–41% of familial FTD patients). For one family, the expansion was present in the proband but absent in the mother, who was diagnosed with dementia at ...