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