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