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