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