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