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