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.
Motor fluctuations
Dyskinesia
Rigidity
Abnormal central motor function
Gait difficulties
Diurnal fluctuations
Parkinsonism
Dysarthria
Show more (+5)
n.a.
p.Asn52Ser: hom
No
n.a.
n.a.
n.a.
0
2
n.a.
Tremor (any or unspecified)
Gait difficulties
Depression
Abnormal central motor function
Sleep disorder
Parkinsonism
Muscular hypotonia
Diurnal fluctuations
Motor fluctuations
Dysarthria
Show more (+7)
n.a.
p.Asn52Ser: hom
Yes
n.a.
n.a.
0
11
n.a.
Dysarthria
Abnormal central motor function
Motor fluctuations
Sleep disorder
Rigidity
Developmental delay/intellectual disability
Dyskinesia
Parkinsonism
Tremor (any or unspecified)
Cognitive impairment
Diurnal fluctuations
Gait difficulties
Show more (+9)
n.a.
p.Pro87Leu: hom