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