Table 1.
JPD | DRD | DRD-plus | Transportopathy | ||
---|---|---|---|---|---|
DAT deficiency | VMAT2 deficiency | ||||
Age of onset | Childhood~Adolescence | Childhood~Adolescence | Infancy | Infancy | Infancy |
Symptoms and signs | |||||
Motor symptoms | |||||
Dystonia | +/− | + | +/− | + | + |
Parkinsonism | + | +/− | +/− | + | + |
Nonmotor symptoms | - | - | + | + | + |
Systemic symptoms | - | - | + | + | + |
Diurnal fluctuation | +/− | + | +/− | - | - |
Laboratory tests | |||||
DAT imaging | Abnormal | Normal | N/Aa | Markedly abnormal | N/Aa |
CSF NTs | Neopterin: | A/T subtypeb | A/T subtypeb | HVA/5-HIAA: | Normal |
Urine NTs | N/Aa | A/T subtypeb | A/T subtypeb | HVA: | 5-HIAA, HVA: |
NE, Dopamine: | |||||
Phenylalanine loading test | N/Aa | A/T subtypeb | A/T subtypeb | N/Aa | N/Aa |
L-dopa responsec | |||||
Dose | Smalld | Small | Large | Large | No response |
Response degree | Good | Marked | Partial | Partial | No responsee |
Motor complicationsf | Frequentg | Absent | Presenth | Presenth | Presenth |
aIt is predicted to be normal.
bAccording to subtype. Please refer to Supplement Table 1 for details.
cDopa agonist is more effective than L-dopa in AADC deficiency, DAT deficiency and VMAT2 deficiency.
dDose increases with time.
eResponds to dopamine agonists.
fMotor fluctuation and dyskinesias.
gMotor complications occur as a late-complication.
hDyskinesia may appear early by the administration of L-dopa in a dose-dependent manner.
5-HIAA hydroxyindoleacetic acid, AADC Aromatic L-amino acid decarboxylase, A/T According to, DAT dopamine transporter, DRD dopa-responsive dystonia, HVA homovanillic acid, JPD juvenile Parkinson’s disease, N/A not available, NE norepinephrine, NTs neurotransmitters, VMAT2 vesicular monoamine transporter 2