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