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