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