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