| 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.
|
Dysphagia
Nystagmus Tremor (any or unspecified) Ataxia Ataxia, limb Gait ataxia Dysarthria Mutism Mental deterioration Tremor, kinetic Cerebellar atrophy Hypogonadotropic hypogonadism Show more (+9) |
Gait ataxia
Mental deterioration |
|
No
|
♂
|
n.a.
|
DEU
|
18
|
44
|
n.a.
|
Ataxia, limb
Gait ataxia Cerebral atrophy Mental deterioration Ataxia Dysarthria Cerebellar atrophy Dysphagia Apraxia Show more (+6) |
Mental deterioration
Ataxia |
|
No
|
♀
|
n.a.
|
DEU
|
n.a.
|
42
|
n.a.
|
Ataxia, limb
Dystonia (any or unspecified) Cerebellar atrophy Gait ataxia Apraxia Ataxia Dysphagia Chorea Dysarthria Slow saccades Autonomic dysfunction Psychosis Behavioural abnormality Cerebral atrophy Mental deterioration Show more (+12) |
Psychosis
|
|
No
|
♂
|
n.a.
|
DEU
|
43
|
45
|
n.a.
|
Gait ataxia
|
||
No
|
♀
|
n.a.
|
DEU
|
n.a.
|
47
|
n.a.
|
Chorea
Apraxia Gait ataxia Dysarthria Psychosis Dystonia (any or unspecified) Mental deterioration Cerebral atrophy Dysphagia Slow saccades Behavioural abnormality Cerebellar atrophy Atrophy/degeneration affecting the brainstem Ataxia Depression Ataxia, limb Postural tremor, upper limb Show more (+14) |
Psychosis
Depression |
|
No
|
♂
|
n.a.
|
DEU
|
23
|
26
|
n.a.
|
Gait ataxia
Dysarthria |
||
Yes
|
♂
|
n.a.
|
DEU
|
18
|
51
|
n.a.
|
Cerebellar atrophy
Olivopontocerebellar atrophy Ataxia, limb Ataxia Dystonia (any or unspecified) Show more (+2) |
Ataxia
|
|
Yes
|
♀
|
n.a.
|
DEU
|
30
|
68
|
n.a.
|
Bradykinesia
Cerebral atrophy Muscle weakness Behavioural abnormality Depression Cerebellar atrophy Gait ataxia Dysarthria Ataxia Atrophy/degeneration affecting the brainstem Postural tremor, upper limb Parkinsonism Spasticity Show more (+10) |
Depression
Dysarthria |