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