| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
DEU
|
33
|
42
|
n.a.
|
Dysarthria
Pons atrophy Chorea Ataxia Cerebral atrophy Slow saccades Weight loss Cerebellar atrophy Mental deterioration Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
DEU
|
43
|
46
|
n.a.
|
Cerebellar atrophy
Nystagmus Cerebral atrophy Sensation alterations Ataxia Autonomic dysfunction Dysarthria Pons atrophy Mental deterioration Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
DEU
|
38
|
49
|
n.a.
|
Weight loss
Dysphagia Dystonia, limb Slow saccades Dysarthria Cerebellar atrophy Cerebral atrophy Ataxia Fasciculations Pons atrophy Tongue fasciculations Dystonia (any or unspecified) Autonomic dysfunction Mental deterioration Chorea Show more (+12) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
DEU
|
36
|
44
|
n.a.
|
n.a.
|