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