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