Genetic testing – guidelines needed suggest researchers

The 24th International Symposium on ALS/MND began in Milan today with a record number of over 950 delegates attending to hear the latest news in MND research.

Inherited MND is a rare form of MND characterised by a family history of the disease. Over recent years more and more genes have been discovered, which has lead to an increase in individuals wishing to pursue genetic testing.

Read more about inherited MND on our website

A genetic test consists of a sample, which is then sent off to a genetic laboratory. Here the blood sample is then screened for the MND-causing genes.

The gene that is faulty in inherited MND can differ between one affected family and another. Mistakes in genes called SOD1, TARD-BP, FUS and C9ORF72 between them account for about 65 – 70% of cases of inherited MND. Scientists have yet to identify the gene defects that cause the remaining 30%.

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Screening for Cognitive and Behavioural Change in MND

sharon abrahams and princess royalMND Association-funded researcher Dr Sharon Abrahams (University of Edinburgh) has recently published an article on the Edinburgh Cognitive ALS Screen (ECAS) in the prestigious journal Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.

It is now recognised that, in up to 50% of people living with MND not only the motor system (walking, talking breathing etc) but also other areas of the brain, particularly those involved in thinking, language and behaviour are affected.

Frontotemporal Dementia

Cognitive and behavioural changes are increasingly common in MND. It is also well known that a small proportion of people living with MND display features of frontotemporal dementia.

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