| 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
Atrophy/degeneration affecting the brainstem Cerebellar atrophy Mental deterioration Tremor (any or unspecified) Dysmetric saccades Rigidity Dysarthria Ataxia, limb Ataxia Tremor, kinetic Autonomic dysfunction Postural tremor, upper limb Nystagmus Show more (+11) |
Gait ataxia
Mental deterioration Dysarthria |
|
Yes
|
n.a.
|
C
|
DEU
|
n.a.
|
n.a.
|
n.a.
|
Ataxia
|
n.a.
|
|
No
|
♀
|
C
|
DEU
|
20
|
23
|
n.a.
|
Dystonia, cervical
Dystonia, limb Dystonia (any or unspecified) Dysarthria Ataxia, limb Head titubation Rigidity Ataxia Show more (+5) |
Dystonia, limb
|
|
Yes
|
♀
|
C
|
DEU
|
34
|
47
|
n.a.
|
Postural instability
Bradykinesia Parkinsonism Dysarthria Rigidity Autonomic dysfunction Mental deterioration Dystonia, limb Behavioural abnormality Cerebral atrophy Ataxia Dysmetric saccades Spasticity Cerebellar atrophy Dystonia (any or unspecified) Show more (+12) |
Dystonia, limb
Behavioural abnormality Ataxia |
|
No
|
♀
|
C
|
DEU
|
n.a.
|
49
|
n.a.
|
Ataxia
|
n.a.
|