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