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