Strupp, 2011: 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.
n.a.
63
n.a.
Nystagmus
Ataxia (ictal)
Ataxia
Saccadic smooth pursuit
Gait ataxia
Show more (+2)
n.a.
Yes
♂
n.a.
n.a.
n.a.
41
n.a.
Ataxia
Ataxia (ictal)
Saccadic smooth pursuit
Nystagmus
Gait ataxia
Show more (+2)
n.a.
Yes
♂
n.a.
n.a.
n.a.
30
n.a.
Ataxia (ictal)
Ataxia
Nystagmus
Saccadic smooth pursuit
Gait ataxia
Show more (+2)
n.a.
No
♂
n.a.
n.a.
n.a.
44
n.a.
Ataxia
Saccadic smooth pursuit
Gait ataxia
Ataxia (ictal)
Show more (+1)
n.a.
No
♂
n.a.
n.a.
n.a.
57
n.a.
Ataxia
Dysmetric saccades
Ataxia (ictal)
Gait ataxia
Slow saccades
Saccadic smooth pursuit
Show more (+3)
n.a.
No
♀
n.a.
n.a.
n.a.
42
n.a.
Ataxia (ictal)
Saccadic smooth pursuit
Ataxia
Nystagmus
Show more (+1)
n.a.
No
♂
n.a.
n.a.
n.a.
13
n.a.
Nystagmus
Saccadic smooth pursuit
Gait ataxia
Ataxia
Ataxia (ictal)
Show more (+2)
n.a.