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