| 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, cervical Dystonia (any or unspecified) Dystonia, focal Tremor, head Dystonia, craniofacial Dystonia, parkinsonism or dyskinesia Developmental regression Show more (+5) |
Tremor (any or unspecified)
Dystonia, cervical |
|
Yes
|
♀
|
O
|
n.a.
|
0
|
3
|
No
|
Developmental regression
Rigidity Motor delay Bradykinesia Dystonic tremor Dystonia, parkinsonism or dyskinesia Muscular hypotonia Dystonia, generalized Dyskinesia Parkinsonism Dystonia (any or unspecified) Show more (+8) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
0
|
7
|
No
|
Parkinsonism
Dyskinesia, orolingual Developmental regression Rigidity Dyskinesia Dystonic tremor Motor delay Dystonia, generalized Chorea Muscular hypotonia Dystonia (any or unspecified) Bradykinesia Dystonia, parkinsonism or dyskinesia Show more (+10) |
Parkinsonism
|
|
No
|
♂
|
I
|
PAK
|
11
|
16
|
Yes
|
Tremor, head
Developmental regression Tremor (any or unspecified) Dystonia, parkinsonism or dyskinesia Tremor, limb Show more (+2) |
Tremor (any or unspecified)
|
|
Yes
|
♂
|
I
|
PAK
|
11
|
28
|
Yes
|
Resting tremor
Tremor (any or unspecified) Bradykinesia Postural instability Dystonia, parkinsonism or dyskinesia Parkinsonism Ocular flutter Developmental regression Show more (+5) |
Tremor (any or unspecified)
|
|
Yes
|
♂
|
C
|
n.a.
|
0
|
4
|
No
|
Dystonia, parkinsonism or dyskinesia
Dystonic tremor Rigidity Muscular hypotonia Dyskinesia Dystonia, generalized Motor delay Dystonia (any or unspecified) Parkinsonism Developmental regression Bradykinesia Show more (+8) |
n.a.
|