| Symbol
| PARK5
|
| Location
| 4p13
|
| Name
|
Parkinson disease 5 |
| Corresponding gene
|
UCHL1
|
| Main clinical features
|
Lewy bodies segregating with postural tremor, rigidity, bradykinesia, and postural instability with a beneficial response to L-dopamine replacement therapy |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| neurology |
| Type
| disease
|
| Name
| ubiquitin carboxy-terminal esterase L1
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| missense
|
|
| I93M, form with onset between 55 and 58 years
| |
| Remark(s)
|
aberrant interaction of mutant UCHL1 with chaperone-mediated autophagy machinery, at least in part, underlies the pathogenesis of familial Parkinson disease |