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