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