| D010300 |
Parkinson Disease |
A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75) |
Idiopathic Parkinson Disease,Lewy Body Parkinson Disease,Paralysis Agitans,Primary Parkinsonism,Idiopathic Parkinson's Disease,Lewy Body Parkinson's Disease,Parkinson Disease, Idiopathic,Parkinson's Disease,Parkinson's Disease, Idiopathic,Parkinson's Disease, Lewy Body,Parkinsonism, Primary |
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| D000071158 |
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 |
A serine/threonine protein kinase with GTPase activity that contains 12 LEUCINE-rich repeats in its central region and 7 WD repeats C-terminal to its kinase and GTPase domains. It localizes to TRANSPORT VESICLES; the OUTER MITOCHONDRIAL MEMBRANE; and the GOLGI APPARATUS. It functions in PROTEIN TRANSPORT; regulates neuron morphology in the central nervous system, and also functions in the trafficking of SYNAPTIC VESICLES. Mutations in the LRRK2 gene have been identified in autosomal dominant cases of PARKINSON DISEASE (PARK8). |
Dardarin Protein,LRRK2 Protein,PARK8 Protein,Leucine Rich Repeat Serine Threonine Protein Kinase 2 |
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