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