Spacey, 2005: 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.
5
52
n.a.
Nystagmus (interictal)
Dysarthria (ictal)
Emotional stress trigger
Ataxia
Dystonia (any or unspecified)
Cerebellar atrophy
Nystagmus
Ataxia (ictal)
Dysarthria
-Dystonia (interictal)
Show more (+7)
n.a.
No
n.a.
n.a.
15
n.a.
n.a.
Emotional stress trigger
Ataxia (ictal)
Ataxia
Physical stress trigger
Show more (+1)
n.a.
p.Gln1561*: het
Yes
n.a.
n.a.
35
64
n.a.
Ataxia (ictal)
Dysarthria (interictal)
Ataxia (interictal)
Ataxia, limb
Diplopia (ictal)
Vertigo (ictal)
Dysarthria (ictal)
Dystonia (any or unspecified)
-Dystonia (interictal)
Dysarthria
Caffeine trigger
Diplopia
Physical stress trigger
Gait ataxia
Ataxia
Nystagmus
Vertigo
Alcohol trigger
Show more (+15)
n.a.
p.Gln1561*: het