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