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