Friedreich Ataxia

Ataxia comes from a Greek work meaning lacking coordination.  There are many Ataxias, each with different causes, hereditary factors and symptoms.  Our work is focussed specifically on Friedreich Ataxia (FA).

What is Friedreich Ataxia (FA)?

FA is a degenerative, genetic, neurological disease that appears predominantly in children and teenagers, usually first diagnosed between the ages of 5 and 15.  FA causes difficulty walking, talking and performing everyday functions, soon leaving sufferers wheelchair bound.

FA is a progressive condition and in time causes weakening of the limbs and in turn complete incapacitation.  It does not affect intellectual capacity.  It’s associated with vision, hearing and speech failure, combined with severe heart disease, scoliosis and diabetes and greatly reduced life expectancy.

FA is extremely rare, currently believed to affect about 1 in 50,000 people in Australia and New Zealand.

Cause

FA is caused by a defect in the genetic code by which the body functions (DNA).  This defect results in reduction or lack of production of an important protein known as frataxin.  Frataxin is an important protein in mitochondria, an energy powerhouse within cells and low frataxin levels are thought to result in poor energy production in cells, susceptibility to free radicals which can damage organs, and accumulation of iron in mitochondria.

History

FA is named after Nikolaus Friedreich, who first described the condition in 1863.  But it was only in 1996 that it was identified that the specific cause is an abnormality in a single gene – the Frataxin (FXN) gene.  Considering the recency of that discovery, the progress made so far in research has been remarkable.

Transmission

FA is an inherited genetic disorder, described as autosomal recessive.  Each of our genes is composed of half which we inherit from our mother and half from our father.  If a person has the abnormality only in one half of their FXN gene, they would have no symptoms, but would be a carrier.  A child of two carriers has a 1-in-4 chance of their FXN gene being inherited from the abnormal half from their mother and the abnormal half from their father.  Only in that case would they exhibit symptoms.  (And it’s usually only on diagnosis of an FA patient that their parents would discover, retrospectively, that they are carriers).