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Written by Terry Suk Edited by Dr. Hayley McLoughlin In this classic article, researchers describe how CAG repeat number variation can inform differences in the way SCA3/MJD symptoms present. Machado-Joseph Disease (MJD) was first described in the 1970’s in four families of Azorean descent. However, it was not initially clear Read More…
Written by Siddharth Nath Edited by Dr. Ray Truant Spinocerebellar ataxia type 7 (SCA7) is unique amongst the SCAs in that it involves an organ besides the brain – the eye. Rather than problems with movement, the first hint that something may be wrong for SCA7 patients is often a subtle change Read More…
Written by Dr. Sriram Jayabal Edited by Dr. Brenda Toscano-Marquez Scientists uncover SACS, a gene containing the largest exon identified in vertebrates, which leads to ARSACS when mutated. What is your morning routine? Coffee first, right? Now, try to think of all the diverse movements you need to make to Read More…
Written by Hillary Handler Edited by Dr. David Bushart How researchers found that SCA1 is caused by an expanded, repetitive DNA sequence – a discovery that has allowed for accurate SCA1 diagnosis and more focused research strategies Before the true genetic basis of Spinocerebellar Ataxia Type 1 (SCA1) was discovered, Read More…
Written by Dr. David D. Bushart Edited by Dr. Carolyn J. Adamski How one research group worked to identify previously unknown causes of SCA13, and what we can learn from their strategy. With so many different causes of cerebellar ataxia, how are doctors able to make an accurate diagnosis? This is Read More…
Written by Dr. Hannah K Shorrock Edited by Dr. Judit M Perez Ortiz How one team uncovered the first SCA known to be caused by a CTG repeat expansion mutation Identifying the gene that causes a type of ataxia not only gives patients and their families a clearer diagnosis and prognosis, Read More…
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