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