| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
DEU
|
n.a.
|
21
|
n.a.
|
Autonomic dysfunction
Tremor (any or unspecified) Ataxia, limb Dysmetric saccades Nystagmus Tremor, kinetic Mental deterioration Postural tremor, upper limb Cerebellar atrophy Atrophy/degeneration affecting the brainstem Rigidity Dysarthria Ataxia Gait ataxia Show more (+11) |
Mental deterioration
Dysarthria Gait ataxia |
|
Yes
|
n.a.
|
C
|
DEU
|
n.a.
|
n.a.
|
n.a.
|
Ataxia
|
n.a.
|
|
No
|
♀
|
C
|
DEU
|
20
|
23
|
n.a.
|
Dystonia (any or unspecified)
Dysarthria Ataxia, limb Head titubation Dystonia, cervical Dystonia, limb Rigidity Ataxia Show more (+5) |
Dystonia, limb
|
|
Yes
|
♀
|
C
|
DEU
|
34
|
47
|
n.a.
|
Dysmetric saccades
Postural instability Cerebellar atrophy Mental deterioration Dystonia, limb Rigidity Cerebral atrophy Behavioural abnormality Spasticity Dystonia (any or unspecified) Parkinsonism Bradykinesia Dysarthria Ataxia Autonomic dysfunction Show more (+12) |
Dystonia, limb
Behavioural abnormality Ataxia |
|
No
|
♀
|
C
|
DEU
|
n.a.
|
49
|
n.a.
|
Ataxia
|
n.a.
|