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