Parkinson disease, autosomal recessive (ARPD) early-onset (EOPD)

Alternative name(s) : Autosomal recessive Parkinson disease (ARPD), Sporadic early onset Parkinsonism (EOPD)

Gene_locus : human-DAGLB

Mutation : 4 mutations c.1821-2A>G_human-DAGLB D363G_human-DAGLB L158SfsX17_human-DAGLB 3kbDel_human-DAGLB

OMIM : 614016

Comment

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