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