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