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Disease Report for: Parkinson disease, autosomal recessive (ARPD) early-onset (EOPD)

Alternative name(s)|Autosomal recessive Parkinson disease (ARPD)
Sporadic early onset Parkinsonism (EOPD)
Mutation|4 mutations (e.g. : 3kbDel_human-DAGLB, D363G_human-DAGLB, L158SfsX17_human-DAGLB... more)
OMIM: |614016

Parkinson's disease (PD) is a long-term degenerative disorder of the central nervous system that mainly affects the motor system. The symptoms usually emerge slowly, and as the disease worsens, non-motor symptoms become more common. The most obvious early symptoms are tremor, rigidity, slowness of movement, and difficulty with walking. The motor symptoms of the disease result from the death of cells in the substantia nigra, a region of the midbrain, leading to a dopamine deficit.More than 20 genes have been linked to the familial forms of PD or Parkinsonism, including both autosomal dominant and recessive mutations

    Title: Deficiency in endocannabinoid synthase DAGLB contributes to early onset Parkinsonism and murine nigral dopaminergic neuron dysfunction
    Liu Z, Yang N, Dong J, Tian W, Chang L, Ma J, Guo J, Tan J, Dong A and Tang B <27 more author(s)>
    Ref: Nat Commun, 13:3490, 2022 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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