Mainka, 2020: Overview of all reported DYT/PARK-SPR patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
n.a.
42
No
Developmental delay
Hypotonia
Cognitive impairment
Intellectual developmental disorder
Diurnal fluctuations
Dyskinesia
Show more (+3)
n.a.
p.Gly173*: hom
Yes
n.a.
n.a.
n.a.
42
No
Dyskinesia
Intellectual developmental disorder
Diurnal fluctuations
Hypotonia
Cognitive impairment
Developmental delay
Show more (+3)
n.a.
p.Gly173*: hom