Tantsis, 2016: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
8
|
n.a.
|
n.a.
|
||
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
n.a.
|
n.a.
|
Tonic upgaze
Headache Dysmetric saccades Cerebellar atrophy Vomiting Vomiting (ictal) Hemiplegia Ataxia Migraine Show more (+6) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
6
|
7
|
n.a.
|
Ophthalmoparesis
Ataxia Cerebellar atrophy |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
14
|
n.a.
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
2
|
n.a.
|
n.a.
|
||
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
13
|
n.a.
|
Acute illness trigger
Ataxia Seizures Muscular hypotonia Fatigue trigger Seizures (ictal) Migraine Dysmetric saccades Ataxia (ictal) Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
4
|
4
|
n.a.
|
Ataxia
Cerebellar atrophy Dysmetric saccades |
n.a.
|