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