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