Parkinson disease 13—susceptibility to—autosomal dominant

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Parkinson disease 13—susceptibility to—autosomal dominant2016-11-27T16:18:56+00:00

Parkinson disease 13—susceptibility to—autosomal dominant 

NEUROLOGY

Definition A genetic form (OMIM:610297) of Parkinson disease*. 

*A complex neurodegenerative disorder characterised by bradykinesia, resting tremor, muscular rigidity and postural instability, and a clinically significant response to levodopa.

Pathology Loss of dopaminergic neurons in substantia nigra, presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of brain.

Molecular pathology Defects of HTRA2, which encodes a serine protease that promotes or induces apoptosis, are linked to Parkinson disease 13—susceptibility to—autosomal dominant  

References http://www.uniprot.org/uniprot/O43464

http://www.omim.org/entry/610297

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