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