Pradotto, 2016: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♂
n.a.
n.a.
n.a.
n.a.
n.a.
Ataxia (ictal)
Ataxia
n.a.
No
♀
n.a.
n.a.
n.a.
n.a.
n.a.
Ataxia (ictal)
Ataxia
n.a.
Yes
♀
n.a.
n.a.
10
49
n.a.
-Muscle weakness (ictal)
Muscle weakness
Cerebellar atrophy
Physical stress trigger
Vertigo
Headache (ictal)
Emotional stress trigger
Headache
Ataxia, limb
Ataxia
Hyperhidrosis
Ataxia (ictal)
Dysmetric saccades
-Limb ataxia (interictal)
Show more (+11)
n.a.
No
♀
n.a.
n.a.
14
n.a.
n.a.
Ataxia
Ataxia (ictal)
n.a.
No
♂
n.a.
n.a.
50
52
n.a.
Ataxia
Ataxia, limb
Cerebellar atrophy
Dysarthria
Gait ataxia
Show more (+2)
n.a.
No
♀
n.a.
n.a.
13
19
n.a.
Dysmetric saccades
Ataxia (ictal)
Ataxia
n.a.