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