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