| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
38
|
51
|
n.a.
|
Cerebellar atrophy
Ataxia Dystonia (any or unspecified) Dysarthria Behavioural abnormality Mental deterioration Cerebral atrophy Rigidity Sensation alterations Dysphagia Autonomic dysfunction Show more (+8) |
Ataxia
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
40
|
57
|
n.a.
|
Rigidity
Cerebral atrophy Sensation alterations Mental deterioration Cerebellar atrophy Dystonia (any or unspecified) Dysphagia Behavioural abnormality Ataxia Dysarthria Show more (+7) |
Ataxia
|
|
No
|
♂
|
n.a.
|
n.a.
|
40
|
49
|
n.a.
|
Rigidity
Behavioural abnormality Dysarthria Mental deterioration Sensation alterations Dysphagia Ataxia Dystonia (any or unspecified) Autonomic dysfunction Cerebral atrophy Cerebellar atrophy Show more (+8) |
Behavioural abnormality
Ataxia |