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