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