Investigating the genetic influence on multiple sclerosis outcomes

Dr Vilija Jokubaitis is first author on the
  Brain paper

by Dr Loretta Piccenna

Researchers from the Department of Neuroscience at Central Clinical School have found that no common genetic variations (those found in 5% or more of the population) are strongly linked to disease severity in people with relapsing-remitting multiple sclerosis (RRMS).

Published in one of the top neuroscience journals, Brain, the multicentre study instead revealed that multiple genetic loci with small effect sizes were associated with clinical outcomes in people with RRMS. Further, a machine learning algorithm using this information, together with clinical and demographic variables available at disease onset, accurately predicted the severity of the disease.

Very different disease course rates in secondary progressive MS

The Big MS Data Network was used for analysis showing that people with
primary progressive MS progressed at different rates during their disease.
Image: Big MS Data Network

by Dr Loretta Piccenna, Research Manager, Department of Neuroscience, Monash University

Background

People who have primary and secondary progressive forms of multiple sclerosis require great consideration both in clinical practice and research due to huge unmet needs. 

Primary and secondary progressive MS are forms in which disability from the disease continues to get worse (with time without experiencing relapses) and does not resolve. So, these forms do not respond in the same way to treatment used for the more common form, relapsing-remitting MS.

A way forward to reliably triage acute stroke for rapid management

Time to treatment after stroke is criticallly important to
reduce the chance of brain damage. A 'proof-of-concept'
study has developed a technique to distinguish between
two main types of stroke which will enable more effective
and accurate clinical decision-making about treatment.

by Dr Loretta Piccenna

Time to treatment after a stroke is critically important to reduce the chance of brain damage.

Acute stroke is caused by either a sudden bleed (or haemorrhage) or a decrease in blood supply due to a blockage of an artery to the brain (ischaemia). These two distinct types of stroke require completely separate treatment pathways.

The “risky” business of thromboembolic events for patients with intravenous immunoglobulin treatment

Dr Mahima Kapoor is the first author on a study which shows higher
risk for patients who have suffered clotting events from a particular
treatment, intravenous immunoglobulin.

by Dr Loretta Piccenna, Department of Neuroscience

An important analysis using the UK Biobank published this month by researchers in the Neuromuscular group in the Department of Neuroscience has shown a three-fold higher risk of blood clots, or thromboembolic events (TEEs), in patients with a prior history of these events when they were treated with intravenous immunoglobulin (IVIg) (1).

Uncovering the mechanisms linking epilepsy and Alzheimer’s Disease with computational genetics

Study overview

by Dr Loretta Piccenna, Department of Neuroscience

People living with Alzheimer’s Disease (AD) have an increased risk of developing seizures, in fact a 10-fold risk which grows higher in people with early onset or familial AD. Conversely, people with epilepsy have a high risk of developing dementia*, suggesting a bidirectional relationship between the two neurological diseases.

Researchers from the Kwan group within the Department of Neuroscience have found two synaptic signalling-associated modules driven by the SCN3B and EPHA4 genes and and two neurogenesis-associated modules driven by the GABRB3 and SCN2A to be dysregulated in brain tissue samples of people with Alzheimer’s Disease (AD), temporal lobe epilepsy (TLE), indicating similar rewiring that may be involved in the molecular mechanisms.

2 March 2020 Neuroscience research updates

Dr Loretta Piccenna doing the equal sign

From Professor Terry O'Brien

I would like to encourage everyone to attend the monthly Neurology & Neurosurgery meeting this Monday 2 March (12noon - 1pm) which will be provided as part of the Departmental Seminar Series. Professor Geoff Cloud will present about 'Managing Spontaneous Intracerebral Haemorrhage the Alfred Brain way' in the Bernard Gillian Seminar Room (Centre Block, Level 4, Alfred Hospital).

Study investigates MS medication use in pregnant women

Women with active MS are increasingly opting to try to get
pregnant, rather than waiting for remission

by Loretta Piccenna 

The number of people with Multiple Sclerosis (MS) has steadily increased over the past 50 years with women three times more likely to develop MS than men, resulting in a greater number of women of childbearing age presenting to neurologists in specialist clinics.

However, very limited information is available about the safety and use of disease-modifying treatments (DMTs) in these women during pregnancy. No clinical guidelines currently exist to assist health professionals in providing informed advice to women about their treatment.

New-onset epilepsy in an ageing population

Prof Patrick Kwan, one of the study co-authors, with an epilepsy
research study patient in the new clinical trial facility at the Alfred

by Anne Crawford

Epilepsy is often regarded as a disease afflicting the young, but the highest incidence of developing new-onset epilepsy is in fact in people aged 60 years old and older – and their number is increasing with an ageing Australian population. Despite this, there has been limited research into this aspect of the disease, with most studies taking a broad approach that looks at older people who are diagnosed with epilepsy in their childhood or middle age.