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