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Inherited MND

Inherited MND is a rare form of MND (5-10% of total cases) that is found to run in families.

A small percentage of people with MND have a family history of the disease. Sometimes these forms of MND are known as familial, or inherited, MND. Inherited MND is caused by a mistake in the genetic code that holds the instructions for making every protein in our bodies; this mistake is passed down from parent to child.

The inherited forms of MND are rare but can be devastating for families affected by it. More information on the issues surrounding inherited MND is available in our inherited MND information sheets:

“I view it as a huge advance if we can prevent the disease from developing and offer a couple the chance of conceiving a child who will be free of the specific disease causing mutation identified in their family.”

– Karen Morrison, Professor of Neurology, Queen Elizabeth Hospital, Birmingham on Pre-implantation Genetic Diagnosis for people affected by inherited MND

Genes that cause inherited MND

To date, we know approximatley 70% of the genes known to cause inherited MND. The most common genetic mistakes are:

  • SOD1, discovered in 1993, accountable for 20% of cases of inherited MND
  • TARDBP (TDP-43), discovered in 2008, accountable for 3-5% of cases of inherited MND
  • FUS, discovered in 2009, accountable for 3-5% of cases of inherited MND
  • C9ORF72, discovered in 2011, accountable for around 40% of cases of inherited MND

Other extremely rare causative genes have also been identified. These discoveries represent major breakthroughs because they can provide important clues as to how motor neurones are damaged in MND and may advance our understanding of all types of the disease.

Recent news:

  • NEK1 genetic changes linked to MND (with and without a family history) (July 2016)
  • C21orf2 genetic variation linked to those with no family history (July 2016)
  • TBK1 inherited MND gene discovered (March 2015)
  • TUBA4A inherited MND gene discovered (October 2014)
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