| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
ITA
|
22
|
51
|
n.a.
|
Cerebellar atrophy
Cerebral atrophy Rigidity Ataxia Dystonia (any or unspecified) Motor fluctuations Psychosis Dysarthria Autonomic dysfunction Mental deterioration Behavioural abnormality Show more (+8) |
Behavioural abnormality
|
|
No
|
♀
|
n.a.
|
ITA
|
33
|
63
|
n.a.
|
Apathy
Ataxia Rigidity Mental deterioration Cerebral atrophy Autonomic dysfunction Anxiety Dysarthria Cerebellar atrophy Psychosis Behavioural abnormality Dystonia (any or unspecified) Show more (+9) |
Behavioural abnormality
|
|
No
|
♂
|
n.a.
|
ITA
|
20
|
60
|
n.a.
|
Apathy
Psychosis Mental deterioration Ataxia Autonomic dysfunction Dystonia (any or unspecified) Behavioural abnormality Dysarthria Rigidity Seizures Show more (+7) |
n.a.
|
|
No
|
♀
|
n.a.
|
ITA
|
35
|
44
|
n.a.
|
Apathy
Mental deterioration Behavioural abnormality Ataxia Cerebral atrophy Dystonia (any or unspecified) Dysarthria Cerebellar atrophy Rigidity Psychosis Depression Anxiety Show more (+9) |
Behavioural abnormality
|
|
No
|
♀
|
n.a.
|
ITA
|
33
|
42
|
n.a.
|
Cerebellar atrophy
Ataxia Autonomic dysfunction Mental deterioration Rigidity Cerebral atrophy Dystonia (any or unspecified) Dysarthria Behavioural abnormality Show more (+6) |
Behavioural abnormality
|
|
No
|
♀
|
n.a.
|
ITA
|
53
|
65
|
n.a.
|
Behavioural abnormality
Mental deterioration Dysarthria Ataxia Autonomic dysfunction Rigidity Show more (+3) |
Behavioural abnormality
|
|
Yes
|
♀
|
n.a.
|
ITA
|
26
|
40
|
n.a.
|
Dystonia, limb
Rigidity Walking aids Apathy Muscle weakness Dystonia (any or unspecified) Behavioural abnormality Tremor (any or unspecified) Ataxia Slow saccades Muscle atrophy Mutism Autonomic dysfunction Cerebellar atrophy Wheelchair Dysarthria Gait ataxia Mental deterioration Depression Cerebral atrophy Seizures Dysphagia Myoclonus Show more (+20) |
Apathy
Behavioural abnormality Gait ataxia |