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