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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00058P273615595
MAPK3
Mitogen-activated protein kinase 3
Homo sapiens
PTMD00241P31751208
AKT2
RAC-beta serine/threonine-protein kinase
Homo sapiens