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