| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
DEU
|
22
|
23
|
n.a.
|
Ataxia
Ataxia, limb Dystonia, laryngeal Gait ataxia Cerebellar atrophy Dystonia (any or unspecified) Dystonia, cervical Show more (+4) |
Dystonia, laryngeal
Gait ataxia |
|
Yes
|
♀
|
n.a.
|
DEU
|
35
|
n.a.
|
n.a.
|
Slow saccades
Muscle weakness Apathy Dystonia, limb Parkinsonism Ataxia, limb Ataxia Dystonia (any or unspecified) Wheelchair Cerebellar atrophy Autonomic dysfunction Mental deterioration Tremor, kinetic Dysarthria Behavioural abnormality Spasticity Cerebral atrophy Chorea Gait ataxia Walking aids Dysphagia Bradykinesia Show more (+19) |
Dystonia (any or unspecified)
Chorea Gait ataxia |
|
No
|
♀
|
n.a.
|
DEU
|
20
|
23
|
n.a.
|
Head titubation
Gait ataxia Ataxia Ataxia, limb Dysarthria Dystonia, limb Dystonia (any or unspecified) Show more (+4) |
Gait ataxia
Dystonia (any or unspecified) |
|
No
|
♀
|
n.a.
|
DEU
|
n.a.
|
n.a.
|
n.a.
|
Ataxia
|
n.a.
|