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