What does SCA stand for?

The starting point for me, as is for many ataxians, was to test for the full panel of Spinocerebellar Ataxias via blood draws.

The third novel SNP resides in the gene that causes spinocerebellar ataxia, a neurodegenerative movement disorder.

The team are targeting a rare inherited neurodegenerative condition, spinocerebellar ataxia.

It is because of the generous donations of individuals and private foundations, as well as family fundraisers, that NAF funded the following research: Research Grant Awards Stefan Kindler, PhD University Medical Center, Hamburg, Germany Spinocerebellar Ataxia 2: Cellular and Molecular Action of Normal and Mutant Ataxin-2 Ataxia, an unsteady and clumsy motion of the limbs and torso, is a common disability accompanied by severe loss of quality of life and often premature death.

Scott describes spinocerebellar ataxia as a genetic spelling mistake that gets bigger and bigger as it passes down the generations.

After decades of searching, two geneticists and their colleagues have demonstrated that chromosome 6 in people with spinocerebellar ataxia 1 contains a short piece of DNA that repeats 40 to 80 times, two to four times more than it should.

Scott Nugent, 35, from Whitley Bay, North Tyneside, has begun the treatment which he hopes will slow the effects of the inherited genetic disorder spinocerebellar ataxia for long enough so that he can see his two-year-old son George grow up.

Spinocerebellar Ataxia 3, also known as Machado-Joseph Disease (SCA3/MJD), is one of several inherited neurodegenerative disorders that are caused by the expression of mutant proteins containing an expanded polyglutamine (polyQ) region.