Leuzzi, 2010: 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.
ITA
n.a.
33
No
Rigidity
Tremor, limb
Intellectual developmental disorder
NMS parkinsonism symptoms
Dystonia/Parkinsonism
Cognitive impairment
Bradykinesia
Developmental delay/intellectual disability
Gait difficulties
Dystonia (any or unspecified)
Global developmental delay
Sleep disorder
Dystonia, axial
Anxiety
Abnormal central motor function
Parkinsonism
Dyskinesia
Tremor (any or unspecified)
Show more (+15)
Rigidity
Yes
n.a.
ITA
0
8
n.a.
Abnormal central motor function
Delayed speech and language development
Muscular hypotonia
Rigidity
Parkinsonism
Show more (+2)
Muscular hypotonia
Rigidity
p.Asn52Ser: hom
Yes
n.a.
ITA
0
11
No
Dysarthria
Rigidity
Dystonia (any or unspecified)
Global developmental delay
Dystonia, upper face
Developmental delay/intellectual disability
Abnormal central motor function
Dystonia/Parkinsonism
Tremor (any or unspecified)
Dystonia, limb
Cognitive impairment
Seizures
Diurnal fluctuations
Intellectual developmental disorder
Parkinsonism
Show more (+12)
Rigidity
Dystonia (any or unspecified)
p.Pro87Leu: hom
Yes
n.a.
ITA
0
15
No
Motor delay
Bradykinesia
Parkinsonism
Delayed speech and language development
Developmental delay/intellectual disability
Dystonia, limb
Abnormal central motor function
Cognitive impairment
Dystonia (any or unspecified)
Intellectual developmental disorder
Global developmental delay
Muscular hypotonia
Dystonia/Parkinsonism
Show more (+10)
Global developmental delay
Muscular hypotonia
No
n.a.
ITA
0
3
n.a.
Rigidity
Motor delay
Cognitive impairment
Muscular hypotonia
Abnormal central motor function
Intellectual developmental disorder
Parkinsonism
Global developmental delay
Developmental delay/intellectual disability
Show more (+6)
Rigidity
Muscular hypotonia
p.Asn52Ser: hom
Yes
n.a.
ITA
0
4
No
Intellectual developmental disorder
Abnormal central motor function
Parkinsonism
Muscular hypotonia
Delayed speech and language development
Cognitive impairment
Bradykinesia
Global developmental delay
Developmental delay/intellectual disability
Show more (+6)
Muscular hypotonia
Bradykinesia
Yes
n.a.
ITA
0
14
No
Muscular hypotonia
Cognitive impairment
Intellectual developmental disorder
Delayed speech and language development
Motor delay
Abnormal central motor function
Global developmental delay
Developmental delay/intellectual disability
Show more (+5)
Muscular hypotonia
Yes
n.a.
ITA
0
2
No
Developmental delay/intellectual disability
Dystonia (any or unspecified)
Dystonia, limb
Cognitive impairment
Global developmental delay
Motor delay
Intellectual developmental disorder
Show more (+4)
Global developmental delay
Yes
n.a.
ITA
0
5
No
Dystonia (any or unspecified)
Abnormal central motor function
Dystonia, limb
Delayed fine motor development
Dystonia, segmental/multifocal
Show more (+2)
Dystonia (any or unspecified)
Yes
n.a.
ITA
0
17
No
Global developmental delay
Cognitive impairment
Abnormal central motor function
Developmental delay/intellectual disability
Muscular hypotonia
Show more (+2)
Muscular hypotonia