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.
Dysarthria
Nystagmus
Dysarthria (ictal)
Emotional stress trigger
Dystonia (any or unspecified)
Ataxia
Cerebellar atrophy
Nystagmus (interictal)
-Dystonia (interictal)
Ataxia (ictal)
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.
Ataxia (ictal)
Nystagmus
Dystonia (any or unspecified)
Diplopia (ictal)
Dysarthria
Caffeine trigger
Diplopia
Ataxia (interictal)
Alcohol trigger
Vertigo
Vertigo (ictal)
Ataxia
Ataxia, limb
-Dystonia (interictal)
Dysarthria (interictal)
Gait ataxia
Dysarthria (ictal)
Physical stress trigger
Show more (+15)
n.a.
p.Gln1561*: het