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