Here I present: “Spinocerebellar Ataxia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ATXN1) 脊髓腦共濟失調。icd10=G32.81
INTRODUCTION.
Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder.
There is evidence spinocerebellar ataxia (SCA) is caused by an expanded (CAG)n trinucleotide repeat in the ataxin type-1 gene (ATXN1) on cytogenetic location 6p22.3 and genomic coordinates 6:16,299,112-16,761,460 . Ataxin-1 is a DNA-binding protein which in humans is encoded by the ATXN1 gene: the screenshot of the ATXN1 gene 462,349 bp (base pairs) of DNA sequence is shown BELOW. Nine (9) other genes besides ATXN1 in the 6p22.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:15,246,069 | JARID2 | Jumonji and AT-rich interaction domain containing 2 |
| 6:15,522,807 | DTNBP1 | Dystrobrevin-binding protein 1 (dysbindin) |
| 6:16,129,086 | MYLIP | Myosin regulatory light chain-interacting protein |
| 6:16,238,587 | GMPR | Guanosine monophosphate reductase |
| 6:16,299,112 | ATXN1 | Ataxin-1 |
| 6:17,281,361 | RBM24 | RNA-binding motif protein 24 |
| 6:17,393,595 | CAP2 | Cyclase-associated actin cytoskeleton regulatory protein 2 |
| 6:17,600,302 | FAM8A1 | Family with sequence similarity 8, member A1 |
| 6:17,615,037 | NUP153 | Nucleoporin, 153kD |
| 6:17,759,126 | KIF13A | Kinesin family member 13A |
