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