※ PTMD 2.0 database Online Browse Options
Browse result for Recessive parkinson disease
※ introduction Hatano et al. (2004) reported 8 unrelated families with autosomal recessive PD from various regions in Asia that showed linkage to the PARK6 locus. Five families were consanguineous. Age at onset ranged from 18 to 56 years, although most had onset in the third or fourth decades. The main clinical features included rigidity, bradykinesia, asymmetric onset, postural instability, and favorable response to levodopa. Other variable features included resting tremor, frozen gait, sleep benefit, dystonia at onset (in 2 patients), hyperreflexia, and levodopa-induced dyskinesias. Progression was generally slow.
Reference
OMIM: Recessive parkinson disease
Reference
OMIM: Recessive parkinson disease
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00058 | P27361 | 5595 | MAPK3 | Mitogen-activated protein kinase 3 | Homo sapiens |
| PTMD00241 | P31751 | 208 | AKT2 | RAC-beta serine/threonine-protein kinase | Homo sapiens |
