Researchers have conclusively identified the genetic cause of a rare, progressive movement disorder.
A rare extra-long version of a gene appears to cause nerve cells to become poisoned by toxic proteins in people with spinocerebellarSCA4 causes muscle weakness and difficulty coordinating body movement, most notably resulting in a jerky and unsteadyThe disease also causes a progressive loss of feeling in the hands andThere's no known cure for SCA4, and up to now there was no known cause, researchers said.
Now, using a recently developed advanced sequencing technology to analyze the genetics of several Utah families, researchers found a section in a gene called ZFHX3 that's much longer than it should be, containing an extra-long string of repetitive DNA. “This mutation is a toxic expanded repeat and we think that it actually jams up how a cell deals with unfolded or misfolded proteins,” said senior researcher Dr. Stefan Pulst, chair of neurology at the University of Utah School of Medicine.
For example, a similar process interfering with protein recycling occurs in another movement disorder called SCA2, researchers noted.
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