Table 3.

Genes Associated with Early-Onset Autosomal Recessive Parkinson Disease in the Differential Diagnosis of PINK1 Type of Young-Onset Parkinson Disease

GenePD Designation 1Median Age at Onset
(Range) 2		Selected Features
PRKN Parkin type of early-onset Parkinson disease (PARK-Parkin)31 yrs
(3-81)
  • Most common cause of EOPD
  • PARK-PINK1 & PARK-Parkin are clinically indistinguishable.
PARK7 (DJ1) PARK-PARK7 (OMIM 606324)27 yrs
(15-40)
  • Phenotype similar to PARK-Parkin
  • IDD &/or seizures occasionally
DNAJC6 PARK-DNAJC6 11 yrs
(7-42)
  • Pyramidal signs
  • IDD / early cognitive impairment
  • Early & vivid hallucinations on intake of dopamine agonists
  • Early falls
  • Saccadic abnormalities
  • Pyramidal signs
FBXO7 PARK-FBXO7 (OMIM 260300)17 yrs
(10-52)
  • IDD / early cognitive impairment
  • Early & vivid hallucinations & behavioral abnormalities on intake of dopamine agonists
  • Early falls
  • Saccadic abnormalities
  • Gaze palsy
  • Oculogyric spasms
  • Pyramidal signs
  • Autonomic dysfunction
SYNJ1 PARK-SYNJ1 (OMIM 615530)21 yrs
(12-31)
  • Early cognitive impairment
  • Early falls
  • Saccadic abnormalities
  • Gaze palsy
  • Pyramidal signs
  • Ataxia
  • Autonomic dysfunction
VPS13C PARK-VPS13C (OMIM 616840)29 yrs
(0-70)
  • Early cognitive impairment
  • Early falls
  • Pyramidal signs
  • Autonomic dysfunction

EOPD = early-onset Parkinson disease; IDD = intellectual developmental disorder

1.

Nomenclature based on Marras et al [2016] and Lange et al [2022].

2.

Data based on Kasten et al [2018], Wittke et al [2021], and the MDSGene website (www​.mdsgene.org).

From: PINK1 Type of Young-Onset Parkinson Disease

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