Heritability of frontotemporal dementia

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!

Our poster at ANZAN ASM 2014

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).

Po et al. J Neurol 2014

Author Affiliations

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

Abstract

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.

Citation

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.

doi: 10.1007/s00415-014-7474-9
PMID: 25156163 (PubMed)

HbA1c now funded for diagnosis

From 1 November 2014, glycated haemoglobin (HbA1c) testing is now funded on the Medicare Benefits Schedule for the diagnosis of diabetes mellitus – MBS item 66841 (up to once every 12 months).

MBS item 66841

The Australian Diabetes Society and other international organisations have recommended since 2011 that an HbA1c ≥48 mmol/mol (≥6.5%) can be used to establish a diagnosis of diabetes.1 Until now this has been impracticable in Australia as it was only Medicare-funded for patients with established diabetes, however this new listing on the MBS provides clinicians with a more practical and efficient way to make the diagnosis.

Reference:
1. d’Emden M, et al. The role of HbA1c in the diagnosis of diabetes mellitus in Australia. Med J Aust 2012;197:220–1. (full text)

RACP exams

“Congratulations. You have been successful in the 2014 Clinical Examination.”

Getting through the Royal Australasian College of Physicians (RACP) examinations this year has been a long, difficult, but ultimately rewarding journey. More than a year of near-constant study, the evening lectures at work and online, the Deltamed course in Melbourne, the written exam at Wentworth Park (with the plastic picnic chairs!), a brief period of respite after passing the written, the many evenings and Saturday mornings spent at the hospital practising cases, and finally the clinical exam held interstate (in my case Greenslopes Private Hospital, Brisbane)…

Greenslopes Private Hospital

My colleagues and I are immensely grateful to everyone who taught and supported us over the past 18 months – we couldn’t have done it without you. Thank you!

Photo credits: Dr Kieren Po (photos 1 & 3), Dr Priyanka Sagar (photo 2)

Normandie 70 ans plus tard

As we commemorate the 70th anniversary of the D-Day landings in Normandy (6 June 1944), I’ve been reflecting on my visit to the region in 2012 and the continuing legacy of that fateful day. It was indeed an eerie experience walking on ground where thousands of soldiers had given their lives.

Gold Beach, near Arromanches-les-Bains, was one of the British landing zones. These days it seems to be a popular recreational beach, however reminders of its wartime role are ever-present. Remnants of the Mulberry Harbour built by the British to offload matériel lie scattered around Gold Beach.

Gold BeachMulberry Harbour, Gold BeachOmaha Beach, to the west, was one of the American landing zones. The terrain is steeper and more rugged, and it’s not hard to imagine how difficult it must’ve been for US forces landing here under enemy fire.

Omaha Beach

Omaha Beach fortificationCimetière américain de Colleville-sur-Mer (Normandy American Cemetery and Memorial) looks over the beach and is a sombre reminder of the costs of war.

Normandy American Cemetery and MemorialReflecting Pool, Normandy American Cemetery and Memorial The photos above are also on my Flickr photostream.

The Saturday Paper

It seems irrational to launch a print newspaper in the current milieu of newspaper-industry upheaval, and yet on 1 March this is exactly what happened. Imaginatively named The Saturday Paper, this weekly is published by Morry Schwartz (already known for The Monthly and the Quarterly Essay).

The Saturday Paper

Printed on high-quality stock (for a newspaper) in compact format, The Saturday Paper is all about long-form journalism and writing in its 32 pages each week. The first two editions contain only 17 articles each and none of the trivial/populist ephemera that dominates the mainstream “news” media. Full-page adverts offer a clue to their target demographic: Mercedes-Benz, Harrolds, Rolex, National Gallery of Victoria, Art Gallery of NSW, etc.

I’ve been concerned about the decline in the quality of journalism in Australia for some years now. The “broadsheets” (no longer printed in broadsheet format) have become almost as unreadable as the tabloids. Many of their best writers and senior journalists have left or been made redundant (with quite a few now writing for Guardian Australia and The Saturday Paper). This publication is a welcome addition to the Australian media landscape. Any new voice is crucial when we have the most concentrated newspaper ownership in the world (dominated by News Corp).

Winter is coming… to Sydney Uni

Studying for the physicians exams in Fisher Library a few weeks ago, I was delighted to hear the Game of Thrones theme being played on the University of Sydney Carillon (pronounced /kəˈrɪljən/). Honorary carillonist Isaac Wong was the one responsible, as seen in the clip below. Hearing it in person amongst the neogothic grandeur of the Quadrangle is quite epic.