| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
DEU
|
n.a.
|
21
|
n.a.
|
Mental deterioration
Ataxia, limb Tremor (any or unspecified) Atrophy/degeneration affecting the brainstem Nystagmus Dysarthria Gait ataxia Tremor, kinetic Dysmetric saccades Postural tremor, upper limb Ataxia Autonomic dysfunction Rigidity Cerebellar atrophy Show more (+11) |
Mental deterioration
Dysarthria Gait ataxia |
|
Yes
|
n.a.
|
C
|
DEU
|
n.a.
|
n.a.
|
n.a.
|
Ataxia
|
n.a.
|
|
No
|
♀
|
C
|
DEU
|
20
|
23
|
n.a.
|
Dysarthria
Ataxia, limb Dystonia, limb Dystonia, cervical Rigidity Head titubation Ataxia Dystonia (any or unspecified) Show more (+5) |
Dystonia, limb
|
|
Yes
|
♀
|
C
|
DEU
|
34
|
47
|
n.a.
|
Cerebral atrophy
Dystonia, limb Behavioural abnormality Parkinsonism Ataxia Dystonia (any or unspecified) Postural instability Spasticity Cerebellar atrophy Dysmetric saccades Dysarthria Rigidity Mental deterioration Autonomic dysfunction Bradykinesia Show more (+12) |
Dystonia, limb
Behavioural abnormality Ataxia |
|
No
|
♀
|
C
|
DEU
|
n.a.
|
49
|
n.a.
|
Ataxia
|
n.a.
|