| 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
Weight loss Mental deterioration Ataxia Pons atrophy Dysarthria Slow saccades Cerebellar atrophy Cerebral atrophy Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
DEU
|
43
|
46
|
n.a.
|
Autonomic dysfunction
Pons atrophy Cerebral atrophy Sensation alterations Dysarthria Cerebellar atrophy Ataxia Nystagmus Mental deterioration Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
DEU
|
38
|
49
|
n.a.
|
Ataxia
Tongue fasciculations Pons atrophy Fasciculations Dystonia (any or unspecified) Slow saccades Mental deterioration Cerebellar atrophy Autonomic dysfunction Weight loss Dysarthria Cerebral atrophy Dystonia, limb Chorea Dysphagia Show more (+12) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
DEU
|
36
|
44
|
n.a.
|
n.a.
|