Symbol
| SCAMRP
|
Location
| 10p15.2
|
Name
|
mental retardation, spinocerebellar ataxia, and psychosis |
Other name(s)
|
Spinocerebellar ataxia, autosomal recessive 30 |
Corresponding gene
|
PITRM1
|
Other symbol(s)
| SCAR30
|
Main clinical features
|
child with mild mental retardation and later developed gradual spinocerebellar ataxia (SCA), obsessional behaviour with psychotic episodes and hallucinations
combining impaired motor coordination, cognitive and psychotic features
. brain MRI showed cerebellar atrophy |
Genetic determination
| autosomal recessive |
Function/system disorder
| neurology |
| mental retardation |
| psychiatry disorder |
Type
| disease
|