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