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