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