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