Blumkin, 2010: 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.
0
7
n.a.
Tremor (any or unspecified)
Nystagmus
Emotional stress trigger
Ataxia, limb
Ataxia
Muscular hypotonia
Cognitive impairment
Muscle weakness
Vomiting
Hemiplegia
Seizures
Gait ataxia
Tonic upgaze
Cerebellar atrophy
Dysarthria
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n.a.