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