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