| 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, cervical Ataxia Dystonia, laryngeal Ataxia, limb Cerebellar atrophy Dystonia (any or unspecified) Show more (+4) |
Gait ataxia
Dystonia, laryngeal |
|
Yes
|
♀
|
n.a.
|
DEU
|
35
|
n.a.
|
n.a.
|
Cerebral atrophy
Apathy Ataxia Autonomic dysfunction Slow saccades Tremor, kinetic Spasticity Cerebellar atrophy Behavioural abnormality Mental deterioration Ataxia, limb Dysphagia Bradykinesia Walking aids Dysarthria Muscle weakness Gait ataxia Dystonia (any or unspecified) Dystonia, limb Wheelchair Parkinsonism Chorea Show more (+19) |
Gait ataxia
Dystonia (any or unspecified) Chorea |
|
No
|
♀
|
n.a.
|
DEU
|
20
|
23
|
n.a.
|
Dystonia (any or unspecified)
Gait ataxia Head titubation Ataxia Dysarthria Ataxia, limb Dystonia, limb Show more (+4) |
Dystonia (any or unspecified)
Gait ataxia |
|
No
|
♀
|
n.a.
|
DEU
|
n.a.
|
n.a.
|
n.a.
|
Ataxia
|
n.a.
|