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