Table 1

Clinical characteristics of patients with Perry syndrome with DCTN1 mutations

Patients (n)87
Age at onset (n)61
 Mean±SD (years)49.1±6.6
 Range (years)35–70
Age at death (n)54
 Mean±SD (years)55.0±7.4
 Range (years)39–81
Disease duration (n)37
 Mean±SD (years)5.5±2.5
 Range (years)2–14
Four cardinal signs (n)63
 Parkinsonism (%)95.2 (60/63)
  Tremor (%)51.7 (31/60)
  Rigidity (%)60.0 (36/60)
  Bradykinesia (%)38.3 (23/60)
  Postural instability (%)23.3 (14/60)
  Response to dopaminergic treatments (%)86.5 (32/37)
 Depression/apathy (%)71.4 (45/63)
 Respiratory symptoms (%)66.7 (42/63)
 Weight loss (%)49.2 (31/63)
Other features (n)63
 Frontal signs (%)19.0 (12/63)
 Oculomotor disorders (%)15.9 (10/63)
 Cognitive impairment (%)15.9 (10/63)
 Dysphasia (%)14.3 (9/63)
 Sleep disturbances (%)20.6 (13/63)
 Autonomic dysfunction (%)9.5 (6/63)
Initial symptoms (n)66
 Depression/apathy (%)56.1 (37/66)
 Parkinsonism (%)54.5 (36/66)
 Weight loss (%)9.1 (6/66)
 Respiratory failure (%)3.0 (2/66)
Cause of death (n)33
 Respiratory failure/pneumonia (%)60.6 (20/33)
 Sudden death (%)15.2 (5/33)
 Others (%)24.2 (8/33)