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