Almannai, 2019: 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
B
OMN
0
8
No
Cognitive impairment
Global developmental delay
Dystonia (any or unspecified)
Autonomic sign/sympt.
Decreased body weight
Intellectual developmental disorder
Abnormal central motor function
Oculogyric crisis
Spasticity
Seizures
Microcephaly
Hyperreflexia
Short stature
Muscular hypotonia
Show more (+11)
Dystonia (any or unspecified)
Yes
B
OMN
0
5
No
Cognitive impairment
Global developmental delay
Abnormal central motor function
Dystonia (any or unspecified)
Delayed speech and language development
Hyperreflexia
Muscular hypotonia
Spasticity
Intellectual developmental disorder
Seizures
Show more (+7)
n.a.
Yes
B
EGY
0
3
No
Abnormal central motor function
Seizures
Global developmental delay
Intellectual developmental disorder
Decreased body weight
Microcephaly
Muscular hypotonia
Spasticity
Cognitive impairment
Short stature
Delayed speech and language development
Dystonia (any or unspecified)
Show more (+9)
n.a.
p.Thr67Met: hom
Yes
B
SAU
0
1
No
Muscular hypotonia
Decreased body weight
Seizures
Abnormal central motor function
Hyperreflexia
Cognitive impairment
Global developmental delay
Spasticity
Intellectual developmental disorder
Short stature
Show more (+7)
Global developmental delay
p.Val57del: hom
Yes
B
SAU
0
4
No
Microcephaly
Intellectual developmental disorder
Short stature
Hyperreflexia
Spasticity
Global developmental delay
Cognitive impairment
Abnormal central motor function
Sleep disorder
Decreased body weight
Seizures
Dystonia (any or unspecified)
Muscular hypotonia
Show more (+10)
Seizures
Muscular hypotonia
p.Asn52Ser: hom
Yes
B
SAU
0
13
No
Muscular hypotonia
Hyperreflexia
Delayed speech and language development
Intellectual developmental disorder
Show more (+1)
Muscular hypotonia
p.Met80Val: hom
Yes
B
SAU
0
1
No
Abnormal central motor function
Hyperreflexia
Global developmental delay
Decreased body weight
Muscular hypotonia
Short stature
Intellectual developmental disorder
Spasticity
Cognitive impairment
Microcephaly
Show more (+7)
Muscular hypotonia
p.Val57del: hom
Yes
B
SAU
1
5
No
Microcephaly
Muscular hypotonia
Short stature
Intellectual developmental disorder
Global developmental delay
Seizures
Spasticity
Decreased body weight
Hyperreflexia
Cognitive impairment
Autonomic sign/sympt.
Abnormal central motor function
Show more (+9)
Global developmental delay
p.Val57del: hom
Yes
B
SAU
1
10
No
Autonomic sign/sympt.
Seizures
Cognitive impairment
Abnormal central motor function
Hyperreflexia
Spasticity
Global developmental delay
Muscular hypotonia
Intellectual developmental disorder
Show more (+6)
Seizures
Muscular hypotonia