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