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