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