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