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