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