8A00.01
Familial Parkinson disease
Doença de Parkinson familiar
CategoryDefinition
Familial subtype of Parkinson Disease, a disorder caused by progressive dopaminergic neuron degeneration of the substantia nigra that is characterized by resting tremor, bradykinesia, and rigidity. Familial cases can be caused by mutations in LRRK2, PARK7, PINK1, PRKN, or SNCA genes.
Index Terms
Familial Parkinson diseaseOther genetic ParkinsonismAutosomal dominant familial Parkinson diseaseParkinson disease LRRK2 gene mutation 12p11.23-q13.11PARK8Parkinson disease synuclein gene mutation 4q21.23PARK1Parkinson disease synduclein duplications or triplicationsParkinson disease UCHL-1 gene mutations 4p14PARK5Autosomal recessive familial Parkinson diseaseParkinson disease parkin mutationsPARK 2Parkinson disease DJ-1 gene mutations 1p36PARK 7Parkinson disease PINK gene mutationsPARK 6PINK 1Parkinson disease ATP13A2 mutations