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