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