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