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