| 1 | SCAAR1, TPP1 |
| TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia. | |
| Dy ME, Sims KB, Friedman J. | |
| Neurology 85(14):1259-61. doi: 10.1212/WNL.0000000000001876. Epub 2015 Jul 29. No abstract available. 2015 | |
| 2 | SCAAR1, TPP1 |
| Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). | |
| Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ. | |
| Hum Mutat 34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11. 2013 | |
| 3 | SCAAR1 |
| A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15. | |
| Breedveld GJ, van Wetten B, te Raa GD, Brusse E, van Swieten JC, Oostra BA, Maat-Kievit JA. | |
| J Med Genet 41(11):858-66. No abstract available. 2004 | |