| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
DEU
|
n.a.
|
60
|
n.a.
|
Depression
|
||
No
|
♂
|
n.a.
|
DEU
|
18
|
20
|
n.a.
|
Dysarthria
Slow saccades |
Dysarthria
|
|
No
|
♀
|
n.a.
|
DEU
|
18
|
38
|
n.a.
|
Mutism
Tremor, kinetic Nystagmus Cerebellar atrophy Tremor (any or unspecified) Ataxia, limb Hypogonadotropic hypogonadism Dysphagia Dysarthria Gait ataxia Mental deterioration Ataxia Show more (+9) |
Gait ataxia
Mental deterioration |
|
No
|
♂
|
n.a.
|
DEU
|
18
|
44
|
n.a.
|
Ataxia, limb
Gait ataxia Dysphagia Dysarthria Ataxia Mental deterioration Cerebral atrophy Cerebellar atrophy Apraxia Show more (+6) |
Ataxia
Mental deterioration |
|
No
|
♀
|
n.a.
|
DEU
|
n.a.
|
42
|
n.a.
|
Chorea
Slow saccades Behavioural abnormality Ataxia, limb Mental deterioration Autonomic dysfunction Ataxia Cerebral atrophy Gait ataxia Dysphagia Dystonia (any or unspecified) Cerebellar atrophy Apraxia Psychosis Dysarthria Show more (+12) |
Psychosis
|
|
No
|
♂
|
n.a.
|
DEU
|
43
|
45
|
n.a.
|
Gait ataxia
|
||
No
|
♀
|
n.a.
|
DEU
|
n.a.
|
47
|
n.a.
|
Depression
Dysphagia Slow saccades Psychosis Atrophy/degeneration affecting the brainstem Cerebellar atrophy Cerebral atrophy Apraxia Mental deterioration Ataxia Dysarthria Postural tremor, upper limb Chorea Ataxia, limb Dystonia (any or unspecified) Gait ataxia Behavioural abnormality Show more (+14) |
Depression
Psychosis |
|
No
|
♂
|
n.a.
|
DEU
|
23
|
26
|
n.a.
|
Gait ataxia
Dysarthria |
||
Yes
|
♂
|
n.a.
|
DEU
|
18
|
51
|
n.a.
|
Olivopontocerebellar atrophy
Ataxia Dystonia (any or unspecified) Cerebellar atrophy Ataxia, limb Show more (+2) |
Ataxia
|
|
Yes
|
♀
|
n.a.
|
DEU
|
30
|
68
|
n.a.
|
Gait ataxia
Parkinsonism Cerebral atrophy Bradykinesia Depression Spasticity Atrophy/degeneration affecting the brainstem Dysarthria Muscle weakness Ataxia Behavioural abnormality Cerebellar atrophy Postural tremor, upper limb Show more (+10) |
Depression
Dysarthria |