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