Riant, 2010: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
n.a.
|
2
|
n.a.
|
n.a.
|
Ataxia
Cognitive impairment Seizures Headache Nystagmus Decreased level of consciousness Hemiplegia Migraine Muscular hypotonia Motor developmental delay Show more (+7) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
7
|
n.a.
|
n.a.
|
n.a.
|
||
Yes
|
♂
|
C
|
n.a.
|
5
|
n.a.
|
n.a.
|
Ataxia
Muscular hypotonia Decreased level of consciousness Headache Migraine Nystagmus Cognitive impairment Hemiplegia Motor developmental delay Show more (+6) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
1
|
n.a.
|
n.a.
|
Motor developmental delay
Ataxia Seizures Headache Cognitive impairment Nystagmus Hemiplegia Migraine Show more (+5) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
5
|
n.a.
|
n.a.
|
Motor developmental delay
Migraine Hemiplegia Nystagmus Ataxia Seizures Muscular hypotonia Cognitive impairment Headache Show more (+6) |
n.a.
|