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