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