| 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.
|
Behavioural abnormality
Cerebellar atrophy Ataxia Rigidity Mental deterioration Sensation alterations Dysarthria Dystonia (any or unspecified) Cerebral atrophy Dysphagia Autonomic dysfunction Show more (+8) |
Ataxia
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
40
|
57
|
n.a.
|
Dysarthria
Sensation alterations Cerebellar atrophy Behavioural abnormality Rigidity Mental deterioration Cerebral atrophy Dysphagia Ataxia Dystonia (any or unspecified) Show more (+7) |
Ataxia
|
|
No
|
♂
|
n.a.
|
n.a.
|
40
|
49
|
n.a.
|
Rigidity
Mental deterioration Dysarthria Ataxia Sensation alterations Cerebellar atrophy Cerebral atrophy Dysphagia Autonomic dysfunction Behavioural abnormality Dystonia (any or unspecified) Show more (+8) |
Ataxia
Behavioural abnormality |