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