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