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