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