| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
TUR
|
10
|
17
|
n.a.
|
Spasticity/pyramidal signs
Bradykinesia Postural tremor Tremor at rest Dystonia Epileptic seizures (of any type) Atypical parkinsonism Rigidity Dysarthria/anarthria Tremor (any or unspecified) Hyperreflexia Intellectual developmental disorder Parkinsonism Postural instability Show more (+11) |
Bradykinesia
Tremor (any or unspecified) |
|
No
|
♀
|
n.a.
|
TUR
|
10
|
44
|
n.a.
|
Scoliosis
Parkinsonism Rigidity Dystonia Dysarthria/anarthria Asymmetric onset Pes cavus Postural tremor Postural instability Bradykinesia Intellectual developmental disorder Tremor at rest Tremor (any or unspecified) Atypical parkinsonism Gait difficulties/falls Spasticity/pyramidal signs Show more (+13) |
Tremor (any or unspecified)
Gait difficulties/falls |
|
No
|
♀
|
n.a.
|
TUR
|
10
|
31
|
n.a.
|
Postural instability
Hyperreflexia Myoclonus Dysarthria/anarthria Epileptic seizures (of any type) NMS parkinsonism Pes cavus Parkinsonism Postural tremor Atypical parkinsonism Rigidity Intellectual developmental disorder Bradykinesia Scoliosis Tremor at rest Spasticity/pyramidal signs Dystonia Tremor (any or unspecified) Show more (+15) |
Bradykinesia
Tremor (any or unspecified) |
|
Yes
|
♀
|
n.a.
|
TUR
|
11
|
24
|
n.a.
|
Dysarthria/anarthria
Rigidity Parkinsonism Postural instability Myoclonus Dystonia Atypical parkinsonism Tremor (any or unspecified) Postural tremor Dystonic tremor Bradykinesia Intellectual developmental disorder Hyperreflexia Tremor at rest Epileptic seizures (of any type) Spasticity/pyramidal signs Show more (+13) |
Dystonia
Tremor (any or unspecified) Bradykinesia |