| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
A
|
JPN
|
7
|
13
|
n.a.
|
Ataxia (interictal)
Cerebellar atrophy Muscle weakness Hemiplegia Ataxia -Gait ataxia (interictal) Vomiting Coma Gait ataxia Headache Show more (+7) |
n.a.
|
|
Yes
|
♀
|
A
|
JPN
|
4
|
8
|
n.a.
|
Nystagmus
Ataxia (ictal) Ataxia Ataxia (interictal) Dysarthria (ictal) Hemiplegia Migraine Cerebellar atrophy Migraine (ictal) Dystonia (any or unspecified) Ataxia, limb Vomiting Muscle weakness Dysarthria (interictal) Gait ataxia Dysarthria Coma Nystagmus (interictal) Vomiting (ictal) Muscular hypotonia Muscular hypotonia (interictal) -Muscle weakness (ictal) -Limb ataxia (interictal) -Dystonia (ictal) -Gait ataxia (interictal) -Hemiplegia (ictal) Show more (+23) |
n.a.
|
|
No
|
♂
|
A
|
JPN
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
||
No
|
♀
|
A
|
JPN
|
18
|
37
|
n.a.
|
Dysarthria (interictal)
-Gait ataxia (interictal) Ataxia Dysarthria Gait ataxia Cerebellar atrophy Headache Ataxia (interictal) Show more (+5) |
n.a.
|
|
No
|
♂
|
A
|
JPN
|
30
|
66
|
n.a.
|
Dysarthria (interictal)
Ataxia (interictal) Gait ataxia Ataxia -Gait ataxia (interictal) Headache Dysarthria Cerebellar atrophy Hemiplegia Coma Show more (+7) |
n.a.
|