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