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