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