Table 1

Clinical characteristics of affected individuals in the study family with ARJP

Affection statusAffectedAffectedAffected
AAO17 years16 years13 years
AAE22 years20 years17 years
Gait disturbance+++
Loss of balance++, 3 years after onset+, 2 years after onset
Falls++, 3 years after onset+, 2 years after onset
LD/CD response40%–50% improvement50% improvement40% improvement
Dystonia+ in ‘off’ period++
Dyskinesia+, 4 years after onset++
Rigidity+, 4/4 on UPDRS III+, 3/4 on UPDRS III+, 3/4 on UPDRS III
Bradykinesiantnt2/4 during ‘on’ state
Postural instabilityntntnt
  • II3, II4, II5, birth and milestones normal; no psychosis/hallucinations/urinary symptoms/postural hypotension/episodes of drenching/sweating; no history of exposure to drugs/toxins; no history of repeated head trauma/febrile illnesses associated with loss of consciousness/alertness; other systems in CNS and systemic examination normal. All the siblings investigated for secondary causes—complete blood count, liver, renal function tests, calcium, phosphorus, alkaline phosphatase, peripheral blood smear examination, copper studies and MRI profiles normal. II3 died 5 years after disease onset.

  • *Exome sequenced.

  • +, symptom present; a.d.l, activities for daily living; AAE, age at time of examination; AAO, age at disease onset; ARJP, autosomal-recessive juvenile Parkinsonism; II3, II4, II5, three affected siblings from family with ARJP; LD/CD, L-dopa/carbidopa combination dose; MMSE, Mini Mental State Examination; nt, not tested (as subject was physically unable to perform required tests); UPDRS III, Unified Parkinson's Disease Rating Scale III.