Table 2

Clinical features in 11 patients carrying EA2 non-truncating CACNA1A mutations

Clinical feature#2 proband#3 proband#3 mother#4 proband#4 son#4 son#5 proband#5 son#6 proband#6 father#6 brother
Mins, minutes; hrs, hours; secs, seconds; NT, not tested; V, vermis; H, hemisphere; fluctuations, fluctuation of permanent ataxia.
Age (years)5432644917135728346038
Age at onset (years)2581510101024222820
Symptoms
    Episodic++++++fluctuats+fluctuats+
        Frequencymonthlyweeklymonthlyweeklyweeklyweeklymonthlyyearlymonthlyvariable
        Durationmins//hrshrsmins/hrshrshrshrshrs/dayssecs/minshrs/daysmins
        Ataxia+++++
        Dysarthria+++++
        Vertigo+++++
        Nausea/vomiting++++
        Oscillopsia+++
        Headache+
        Migraine++++
        Auraauditory
    Interictal cerebellar
        Ataxiamildmildmildmildmildsevereseveremild
        Dysarthriamildmildmild
        Dysmetriamildseveremild
        Adiadochokinesiamildmildmild
        Nystagmus+++++++++++
        V atrophy++++NTNT+NT+NTNT
        H atrophy++NTNTNT+NTNT
    Extracerebellar+++
Acetazolamide response ++NT+++NTNTNTNTNT
Mutation R2136CΔMS 1488/9ΔMS 1488/9C256RC256RC256RG1483RG1483RV1494IV1494IV1494I