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