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