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