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