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