| 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
Vomiting Ataxia (interictal) Muscle weakness Coma Headache Gait ataxia -Gait ataxia (interictal) Hemiplegia Ataxia Show more (+7) |
n.a.
|
|
Yes
|
♀
|
A
|
JPN
|
4
|
8
|
n.a.
|
Dysarthria
-Hemiplegia (ictal) Migraine Hemiplegia Ataxia (interictal) Vomiting -Gait ataxia (interictal) Muscle weakness -Limb ataxia (interictal) Ataxia Gait ataxia Muscular hypotonia Migraine (ictal) Dystonia (any or unspecified) Nystagmus (interictal) Muscular hypotonia (interictal) -Dystonia (ictal) Nystagmus Ataxia (ictal) Ataxia, limb Dysarthria (interictal) Dysarthria (ictal) Vomiting (ictal) Cerebellar atrophy -Muscle weakness (ictal) Coma Show more (+23) |
n.a.
|
|
No
|
♂
|
A
|
JPN
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
||
No
|
♀
|
A
|
JPN
|
18
|
37
|
n.a.
|
Headache
Ataxia (interictal) -Gait ataxia (interictal) Gait ataxia Cerebellar atrophy Dysarthria (interictal) Ataxia Dysarthria Show more (+5) |
n.a.
|
|
No
|
♂
|
A
|
JPN
|
30
|
66
|
n.a.
|
Gait ataxia
Dysarthria (interictal) Headache Ataxia Ataxia (interictal) -Gait ataxia (interictal) Coma Cerebellar atrophy Dysarthria Hemiplegia Show more (+7) |
n.a.
|