Here I present “Spinocerebellar Ataxia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 脊髓腦共濟失調。(SCA45) icd10=G32.81
INTRODUCTION
Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and is often associated with poor coordination of hands, speech, and eye movements. A review of different clinical features among SCA subtypes was recently published describing the frequency of non-cerebellar features, like Parkinsonism, chorea, pyramidalism, cognitive impairment, peripheral neuropathy, seizures, among others. As with other forms of ataxia, SCA frequently results in atrophy of the cerebellum, loss of fine coordination of muscle movements leading to unsteady and clumsy motion, and other symptoms.
There is evidence evidence that spinocerebellar ataxia type-45 (SCA45) is caused by heterozygous mutation in the fat tumor suppressor-2 (FAT2) gene on cytogenetic location 5q33.1 and genomic coordinates 5:151,504,092-151,594,819. The screenshot of the FAT2 gene 90,728 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides FAT2 in 5q33.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:151,253,185 | GM2A | GM2 ganglioside activator protein |
| 5:151,276,358 | SLC36A3 | Solute carrier family 36 member 3 |
| 5:151,314,972 | SLC36A2 | Solute carrier family 36 member 2 |
| 5:151,344,596 | SLC36A1 | Solute carrier family 36 member 1 |
| 5:151,504,092 | FAT2 | FAT atypical cadherin 2 |
| 5:151,661,096 | SPARC | Osteonectin (secreted protein, acidic, cysteine-rich) |
| 5:151,742,822 | ATOX1 | Antioxidant protein 1 (ATX, yeast, homolog of) |
| 5:151,771,954 | G3BP1 | G3BP stress granule assembly factor 1 |
| 5:151,822,513 | GLRA1 | Glycine receptor, alpha-1 polypeptide |
| 5:152,391,546 | NMUR2 | Neuromedin U receptor 2 |
