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.
Dysmetric saccades
Ataxia
Hemiplegia
Ophthalmoparesis
Show more (+1)
n.a.
Yes
n.a.
n.a.
1
n.a.
n.a.
Headache
Hemiplegia
Migraine
Vomiting (ictal)
Tonic upgaze
Dysmetric saccades
Ataxia
Vomiting
Cerebellar atrophy
Show more (+6)
n.a.
No
n.a.
n.a.
6
7
n.a.
Ataxia
Cerebellar atrophy
Ophthalmoparesis
n.a.
p.Lys1337*: het
Yes
n.a.
n.a.
2
14
n.a.
Ataxia
Acute illness trigger
Migraine
Tonic upgaze
Ataxia (ictal)
Fatigue trigger
Show more (+3)
n.a.
Yes
n.a.
n.a.
2
2
n.a.
Ataxia
Migraine
Ophthalmoparesis
Hemiplegia
Show more (+1)
n.a.
Yes
n.a.
n.a.
n.a.
13
n.a.
Ataxia (ictal)
Seizures (ictal)
Dysmetric saccades
Ataxia
Acute illness trigger
Seizures
Muscular hypotonia
Fatigue trigger
Migraine
Show more (+6)
n.a.
Yes
n.a.
n.a.
4
4
n.a.
Dysmetric saccades
Cerebellar atrophy
Ataxia
n.a.
p.Lys1337*: het