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