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