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