Clinical characteristics of EA2 families carrying CACNA1A mutations

Families with more than 3 affected subjects in at least 2 generations are included in the table.

Abbreviations: early onset < 20 years; late onset > 20 years;

Reference / Clinically affected / affected generations / CACNA1A mutation / Age of onset / Interictal phenotype / Ictal phenotype / Frequency of attacks / Triggers / Treatment response
early onset < 20 years / late onset > 20 years / Earlier onst in succeeding generations / progressive ataxia / nystagmus / additional features / ataxia / headache / unilateral symptoms / additional features
Hu et al., 2013 / 12 / 4 / c.6107C>A, (p.Tyr1957Ter) / √ / √ / - / mild / - / - / √ / - / √ / abdominal pain / 1 / year –
3 / day / exercise, emotional stress / acetazolamide (+)
Choi et al., 2013 / 6 / 3 / c.4391-G>C, (p.Val1465Glyfs13X) / √ / √ / √ / - / √
(4/6) / epilepsy / mild / - / - / 1 / month - 2 / day / exercise, emotional stress / acetazolamide (+)
Romaniello et al., 2010 / 3 / 3 / c.1213G>A
(p.Ala405Thr) / √ / - / - / √ / √ / hypotonia, pyramidal signs, epilepsy / √
(1/3) / √
(2/3) / - / muscular weakness,
stiffness and muscular pain / sporadic / stress, sleep deprivation / no data
Jung et al., 2010 / 3 / 2 / c.1063dupG / √ / - / - / √ / √ / mental retardation,
epilepsy (1/3) / √ / √ / √ / - / 3 / week / no data / acetazolamide
(-)
aminopyridine (+)
Cleves et al., 2010 / 4 / 3 / c.583G>A
(p.Arg583Glu) / √ / √ / √ / √ / - / - / √ / √ / √ / fever, confusion, memory loss / 1 in 4 months / mild head trauma / verapamile (+)
Self et al., 2009 / 8 / 3 / c.4110T>G (p.Phe1370Leu) / - / √ / - / √ / √ / - / - / √ / - / no data / no data / acetazolamide (–)
Krishnan et al., 2008 / 6 / 4 / c.4588G>A / √ / √ / √ / √
(5/6) / √
(2/6) / - / √
(1/6) / √
(1/6) / - / - / rare - 2 / week / exercise, heat / no data
Riant et al., 2008 / 6 / 3 / 39.5 kb deletion / √ / - / - / √ / √
(3/6) / pes cavus short statue, hypertrophy of muscles, dysmorphism (1/6) / √ / √
(2/6) / pallor
(2/6) / increasing with age / noise, emotional stress, exercise / acetazolamide (+)
Cricci et al., 2007 / 3 / 2 / c.1360G>A
(p.Ala454Thr) / √ / √ / √ / √ / √ / - / √ / √ / - / - / no data / no data / acetazolamide
(-/+)
Kim et al., 2006 / 6 /2 / c.2042_2043delAG
(p.Gln681ArgfsX16) / √ / - / - / - / √ / √ / - / - / - / increasing with age / stress, exercise, heat / acetazolamide (+)
Spacey et al., 2005 / 5 / 4 / c.4963C>T / √ / - / - / √ / √ / dystonia / √
(2/5) / √
(1/5) / - / - / 1 / week –
6 /week
increasing with age / stress, anxiety, cigarettes, caffeine, alcohol / acetazolamide (+)
Kaunisto et al., 2004 / 13 / 4 / IVS36-2A>G / √ / √ / - / √
(9/13) / √
(9/13) / seizures (3/13) / √ / √
(6/13) / - / fatigue / No data / exercise, emotional stress, heat / acetazolamide (+/-)
Van den Maagdenberg et al., 2002 / 4 / 3 / c.2145_2148delTTCA / √ / - / - / √ / - / - / √ / √ / - / - / free of attacks in 2nd and 3rd decade / no data / acetazolamide (+)
Van den Maagdenberg et al., 2002 / 4 /3 / c.4451delC / √ / - / - / √ / √ / mental retardation / √ / √ / - / - / decreased in 3rd decade / no data / acetazolamide (+)
Van den Maagdenberg et al., 2002 / 8 / 3 / c.1032C>T
(p.Hys253Tyr) / √ / √ / - / √ / √ / - / √ / - / - / 1-2 per week / exertion, alcohol / acetazolamide (+)
Denier et al., 2001 / 4 / 3 / c.1757G>A
(p.Glu1757Lys) / - / √ / - / √ / √ / - / √ / √ / √ / heat sensations, diffuse weakness / 3-4 per month up to once daily / emotional and physical stress / acetazolamide (+)
Wan et al., 2005
Baloh et al., 1997 / 5 / 3 / 4-nucleotide GAGT deletion IVS41 +(3-6) / √ / - / - / √ / - / - / √ / √ / √ / diffuse weakness, muscle spasms / no data / stress, exercise / acetazolamide (+)
Scoggan et al., 2001 / 8 / 3 / insG3091 / √ / - / - / Mild / √ / - / √ / √ / - / weakness, confusion / no data / emotional and physical stress / no data
Jen et al., 1999 / 17 / 4 / c.4914C>T / √ / - / - / √
(10/17) / √
(14/17) / √ (12/17) / √ (10/17) / √ (2/17) / - / exercise, stress, alcohol / acetazolamide (+)