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