One of my side projects over the past 2 years has been research in the cognitive neurosciences under the supervision of Dr James Burrell at Neuroscience Research Australia (NeuRA). Specifically, we were looking at the heritability of frontotemporal dementia.
Preliminary results from our study were published as a poster at the Australian and New Zealand Association of Neurologists (ANZAN) Annual Scientific Meeting 2014 in Adelaide. I doubt that anyone else at a neurology conference would typeset a poster in Helvetica Neue Light!
This culminated in a paper which was accepted in the Journal of Neurology and published in November 2014 (vol 261 no 11). The abstract is reproduced below, along with the correct author affiliations (an error was introduced by the journal subeditors – Professors Kwok, Halliday and Hodges are not affiliated with Concord Repatriation General Hospital).
Concord Repatriation General Hospital, Sydney, Australia – KP, JB
Sydney Medical School, The University of Sydney, Australia – KP
Neurosciences Research Australia, Sydney, Australia – FL, NG, LB, JK, GH, JH, JB
The University of New South Wales, Sydney, Australia – JK, GH, JH, JB
Frontotemporal dementia (FTD) is reportedly highly heritable, even though a recognized genetic cause is often absent. To explain this contradiction, we explored the “strength” of family history in FTD, Alzheimer’s disease (AD), and controls. Clinical syndromes associated with heritability of FTD and AD were also examined. FTD and AD patients were recruited from an FTD-specific research clinic, and patients were further sub-classified into FTD or AD phenotypes. The strength of family history was graded using the Goldman score (GS), and GS of 1-3 was regarded as a “strong” family history. A subset of FTD patients underwent screening for the main genetic causes of FTD. In total, 307 participants were included (122 FTD, 98 AD, and 87 controls). Although reported positive family history did not differ between groups, a strong family history was more common in FTD (FTD 17.2 %, AD 5.1 %, controls 2.3 %, P < 0.001). The bvFTD and FTD-ALS groups drove heritability, but 12.2 % of atypical AD patients also had a strong family history. A pathogenic mutation was identified in 16 FTD patients (10 C9ORF72 repeat expansion, 5 GRN, 1 MAPT), but more than half of FTD patients with a strong family history had no mutation detected. FTD is a highly heritable disease, even more than AD, and patients with bvFTD and FTD-ALS drive this heritability. Atypical AD also appears to be more heritable than typical AD. These results suggest that further genetic influences await discovery in FTD.
Po K, Leslie FVC, Gracia N, Bartley L, Kwok JBJ, Halliday GM, Hodges JR, Burrell JR. Heritability in frontotemporal dementia: more missing pieces? J Neurol. 2014;261(11):2170–7.
PMID: 25156163 (PubMed)