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