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