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