This just in –
- ATXN7 – 3p14.1 – CAG – autosomal dominant cerebellar ataxias (ADCA)
- One region of the CSTB gene (21q22.3) has a particular repeating sequence of 12 DNA building blocks (nucleotides) written as CCCCG-CCCCG-CG. This sequence, called a dodecamer repeat, is usually repeated two or three times within a part of the gene that helps regulate cystatin B protein production. Most people with Unverricht-Lundborg disease have more than 30 repeats of the dodecamer sequence in both copies of the CSTB gene.
- RP1L1 – 8p23.1 – 16aa – Occult macular dystrophy
- SHPK – 17p13.2 – ALu – Sedoheptulokinase deficiency
I am plugged into something of a genetics grapevine.
For some reason that seemed like a good idea at the time, I asked if folks out there could send me some stuff like syndrome, gene name and gene location for ataxia. Sheesh – what a flood. 180 (!) genes already. I have a high capacity mailbox, that is finally empty of ataxia emails