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