| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
I
|
PAK
|
11
|
26
|
Yes
|
Dystonia, cervical
Dystonia, focal Dystonia, craniofacial Tremor, head Tremor (any or unspecified) Dystonia, parkinsonism or dyskinesia Dystonia (any or unspecified) Developmental regression Show more (+5) |
Dystonia, cervical
Tremor (any or unspecified) |
|
Yes
|
♀
|
O
|
n.a.
|
0
|
3
|
No
|
Bradykinesia
Dystonia (any or unspecified) Muscular hypotonia Dystonic tremor Parkinsonism Dystonia, generalized Dyskinesia Rigidity Dystonia, parkinsonism or dyskinesia Developmental regression Motor delay Show more (+8) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
0
|
7
|
No
|
Dystonic tremor
Parkinsonism Rigidity Motor delay Dystonia, generalized Developmental regression Dystonia (any or unspecified) Chorea Dyskinesia, orolingual Dystonia, parkinsonism or dyskinesia Dyskinesia Muscular hypotonia Bradykinesia Show more (+10) |
Parkinsonism
|
|
No
|
♂
|
I
|
PAK
|
11
|
16
|
Yes
|
Dystonia, parkinsonism or dyskinesia
Tremor (any or unspecified) Tremor, head Developmental regression Tremor, limb Show more (+2) |
Tremor (any or unspecified)
|
|
Yes
|
♂
|
I
|
PAK
|
11
|
28
|
Yes
|
Postural instability
Dystonia, parkinsonism or dyskinesia Tremor (any or unspecified) Parkinsonism Bradykinesia Ocular flutter Developmental regression Resting tremor Show more (+5) |
Tremor (any or unspecified)
|
|
Yes
|
♂
|
C
|
n.a.
|
0
|
4
|
No
|
Bradykinesia
Muscular hypotonia Dystonia (any or unspecified) Motor delay Dystonic tremor Dystonia, generalized Dyskinesia Developmental regression Parkinsonism Rigidity Dystonia, parkinsonism or dyskinesia Show more (+8) |
n.a.
|