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