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