Konno, 2017: Overview of all reported PARK-DCTN1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
CAN
57
n.a.
n.a.
Saccadic abnormalities
Atypical parkinsonism
Anxiety
Hypoventilation respiratory complications
Gait difficulties/falls
Spasticity/pyramidal signs
Decreased body weight
Hyperreflexia
Parkinsonism
Hypomimia
Depression
Rigidity
Respiratory sighs
Show more (+10)
Gait difficulties/falls
p.Gly71Glu: het
Yes
n.a.
POL
45
48
n.a.
Parkinsonism
Dysphagia
Impulsive control disorder
Tremor at rest
Hypoventilation respiratory complications
Dysarthria
Respiratory sighs
Spasticity/pyramidal signs
Autonomic sign/sympt.
Gait difficulties/falls
Epileptic seizures (of any type)
Dyskinesia
Tremor (any or unspecified)
Atypical parkinsonism
Bradykinesia
Hypomimia
Cognitive decline
Apathy fatigue
Asymmetric onset
Sleep disorder
Saccadic abnormalities
Depression
Show more (+19)
Bradykinesia
Apathy fatigue
p.Gly71Glu: het