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