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