Symbol
| SPG48
|
Location
| 7p22.1
|
HGNC id
| 22197
|
Name
|
spastic paraplegia 48 |
Corresponding gene
|
KIAA0415
|
Main clinical features
|
progressive spastic paraplegia associated with urinary incontinence
late onset (6th decade) uncomplicated spastic paraplegia
normal cerebral MRI with inconstant spinal hyperintensities at C3-C4 and C7 |
Genetic determination
| autosomal recessive |
Function/system disorder
| neuromuscular |
Type
| disease
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
frameshift
| deletion
| abnormal protein/loss of function
|  
| nonsense
|  
| abnormal protein/loss of function
|  
| |