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