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