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