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