New Diagnostic Tool and Treatment Recommendations for NPC

New Diagnostic Tool and Treatment Recommendations for NPC

As part of the international NPC Guidelines working group, A/Prof Mark Walterfang has been involved in two new publications summarising the state-of-the-art in diagnosis and management of Niemann-Pick type C (NPC) disease. The first describes a “suspicion index” to assist clinicians in detecting patients who may have NPC, and allows for the ranking of symptoms to produce an overall illness score and then suggests pathways to diagnosis. The second is a thorough review and update regarding current diagnostic and management issues for clinicians treating patients with NPC, including multidisciplinary management, experimental treatments, and illness monitoring.

These two papers can be found
here and here.

Wijburg et al.
Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C. Neurology 78: 1560-1567, 2012.

Patterson et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update.
Mol Genet Metab 106: 330-344, 2012.

Subcortial Morphology as a Dementia Biomarker


In collaboration with A/Prof Jeff Looi from the Australian National University, we have conducted a group of studies in various neurodegenerative disorders, and have shown that differing types of illness have relatively unique “shape signatures” that characterise their underlying pathology. These signatures may prove to be unique biomarkers for illness stage, progression over time and response to future illness-modifying therapies.

The two publications characterising these morphological changes in dementia can be found
here and here.

Looi et al. Striatal morphology as a biomarker in neurodegenerative disease.
Mol Psychiatry 2012 May 15. doi: 10.1038/mp.2012.54.

Looi et al.
Frontotemporal dementia as a frontostriatal disorder: neostriatal morphology as a biomarker and structural basis for an endophenotype. Aust NZ J Psychiatry 46: 422-434, 2012.

Brain Shape Analysis May Differentiate Alzheimer's from FTD


A/Prof Mark Walterfang and Dr Dennis Velakoulis, with colleagues from ANU and the Karolinska Institute in Sweden, have shown how analysis of the shape of the hippocampus, one of the key brain regions involved in memory, can differentiate Alzheimer’s disease (AD) from another key type of dementia, fronto-temporal dementia (FTD).

Dr Walterfang undertook computerised shape analysis techniques on magnetic resonance imaging (MRI) scans to demonstrate that the head of the hippocampus is preferentially affected in FTD, whereas it is relatively spared in AD, which tends to affect the rest of the hippocampal structure.

The paper can be found

Lindberg et al. Hippocampal shape analysis in Alzheimer’s disease and frontotemporal dementia subtypes. J Alzheimers Dis 30: 355-365, 2012.