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