NHMRC RD Wright Fellow, NeuRA
+612 9399 1837
Assoc Prof Kwok completed a PhD on human genetics at the University of Cambridge, England in 1994. After returning to Australia, he was awarded the Australian Postdoctoral fellowship in Dementia Research in 1995. During this time, he consolidated preliminary mutations screens to better understand the relationship between specific mutations in dementia genes and observed clinical presentation and neuropathology of the disease. In 2002, he was awarded an R Douglas Wright Biomedical Career Development Award (NHMRC) to work on the biochemistry and genetics of hereditary dementias.
MARIANNE HALLUPP Research Assistant
JESSICA LAZARUS PhD student
To observe longitudinal outcomes and progression in probable and possible BVFTD in accordance with international diagnostic criteria and to identify features that may aid clinicians to prognosticate better in cases of possible BVFTD. Behavioral variant FTD shows variable progression over time. Clinicians can use a detailed neurologic and cognitive assessment to identify key predictive features of progression when faced with possible BVFTD, whereas a diagnosis of probable BVFTD is accurate in a clinical setting.
The C9orf72 genetic mutation represents the most common cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Studies over the last 2 years have revealed a number of key features of this mutation in the fields of clinical neurology, imaging, pathology, and genetics. Despite these efforts, the clinical phenotype appears to extend beyond FTD and ALS into the realm of psychiatric disease, and while highly variable survival rates have been reported, the clinical course of carriers remains relatively unexplored. This report describes two contrasting C9orf72 cases, one with a protracted indolent course dominated by neuropsychiatric features and the other with a rapidly progressive dementia. In both cases, initial structural brain imaging was relatively normal.
To estimate the heritability of plasma ApoA1 protein levels; to examine DNA methylation variation within the APOA1 gene; and to investigate whether APOA1 methylation is associated with plasma ApoA1 levels and episodic memory performance. Findings demonstrated that epigenetic control of APOA1 expression and DNA methylation levels are associated with episodic memory performance in older adults.