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