Porta, 2009: Overview of all reported DYT/PARK-PTS patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
n.a.
0
8
n.a.
Dyskinesia
Rigidity
Dysarthria
Gait difficulties
Abnormal central motor function
Motor fluctuations
Diurnal fluctuations
Parkinsonism
Show more (+5)
n.a.
p.Asn52Ser: hom
No
n.a.
n.a.
n.a.
0
2
n.a.
Muscular hypotonia
Sleep disorder
Diurnal fluctuations
Dysarthria
Motor fluctuations
Abnormal central motor function
Depression
Tremor (any or unspecified)
Gait difficulties
Parkinsonism
Show more (+7)
n.a.
p.Asn52Ser: hom
Yes
n.a.
n.a.
0
11
n.a.
Cognitive impairment
Gait difficulties
Motor fluctuations
Developmental delay/intellectual disability
Rigidity
Sleep disorder
Parkinsonism
Tremor (any or unspecified)
Dysarthria
Abnormal central motor function
Diurnal fluctuations
Dyskinesia
Show more (+9)
n.a.
p.Pro87Leu: hom