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