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Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1

MedGen UID:: 1684827
•Concept ID:: CN043330
•: Disease or Syndrome

Authors:
Lola Cook Shukla | Jeanine Schulze | Janice Farlow, et. al. view full author information

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVParkinson disease

Non-Neoplastic Disorder by Special Category
- Degenerative disorder
  - Degenerative disease of the central nervous system
    - Extrapyramidal disease
      - Parkinson disease
        Parkinson disease 6
        Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1

Recent clinical studies

Clinical prediction guides

Progression of pathology in PINK1-deficient mouse brain from splicing via ubiquitination, ER stress, and mitophagy changes to neuroinflammation.

Torres-Odio S, Key J, Hoepken HH, Canet-Pons J, Valek L, Roller B, Walter M, Morales-Gordo B, Meierhofer D, Harter PN, Mittelbronn M, Tegeder I, Gispert S, Auburger G
J Neuroinflammation 2017 Aug 2;14(1):154. doi: 10.1186/s12974-017-0928-0. PMID: 28768533 Free PMC Article

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ClinVar
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Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1

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CN043330[conceptid] (1)
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