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