New research has discovered that some patients with1 motor neuron Disease (MND) and frontotemporal dementia (FTD) carry the same rare genetic defects that cause other neurodegenerative diseases.

2Researchers from the Macquarie University MND Research Centre and The Walter and Eliza Hall Institute of Medical Research have identified the defects in the genomes of some people with non-inherited, or sporadic, MND and FTD.

3MND results in the death of the neurons, or motor nerves, connecting the brain and spinal cord to the muscles. These are the cells that control our ability to move, breathe and swallow. The disease is progressive and eventually fatal.

FTD also causes the death of neurons in part of the brain, resulting in a range of progressive symptoms such as memory loss, unusual behaviour, personality changes and communication problems.4 It is the same form of dementia with which actor Bruce Willis was recently diagnosed, and unlike older-onset dementia, it tends to affect people under 65.

The majority of cases in both diseases - about 90 per cent in the case of MND and 60-70 per cent in FTD - are sporadic, with the rest occurring in families.

These gene defects, known as short tandem repeat expansions, are the cause of more than 20 neurodegenerative diseases including spinocerebellar ataxias and myotonic dystrophy.

Reference:

Science Advances, DOI 10.1126/sciadv.ade2044

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