Table 1.

Clinical pictures and types of variants of some of the ATLD1 cases.

Study		MRE11 variants	Clinical picture
			ataxia	deep tendon reflexes	facial dyskinesia	dystonia	dysarthria	ocular apraxia	cerebellar atrophy in MRI
Fernet et al. (Saudi Arabia) (3)	Family 1–4 cases	c.630G > C (p.Trp210Cys) (homozygous)	+	reduced	+	NM	NM	+	+/NA
	Family 2–3 cases		+	brisk	−	NM	NM	+	+
	Family 3–3 cases		+	reduced/ normal	−	NM	NM	+	+
Delia et al. (Italy) (39)	2 cases (siblings)	c.1442C>A (p.Thr481Lys); c.1714C>T (p.Arg572Ter)	+	reduced	+	slight dystonia of the hands/ face and hands	+	+	+
Mahale et al. (India) (41)	1 case	c.314 + 4_314 + 7 del (as reported in the source)	+	reduced	NM	mild finger dystonia	−	+	+
Raslan et al. (Brazil) (26)	2 cases (siblings)	c.1876_1895dup (p.Lys633fs) c.1516G > T (p.Glu506Ter)	+	absent	NM	mild dystonia in hands and feet	NM	+	−
Uchisaka et al. (Japan) (30)	2 cases (siblings)	c.727 T > C; g.24994 G > A (as reported in the source)	+	NM	−	−	+	+	+
Stewart et al. (United Kingdom) (5, 37, 38)	Family 1–2 cases (cousins)	c.1897C>T (p.Arg633Ter) (homozygous)	+	absent	NM	NM	+	+	+
	Family 2–2 cases (brothers)	c.350A>G (p.Asn117Ser); c.1714C>T (p.Arg572Ter)	+	normal	NM	present, distal	+	+	+
This report	1 case	c.77 T > C (p.Met26Thr); c.1090C > T (p.Arg364Ter)	+	brisk	+	severe dystonia of face and neck	+	−	+

NM, not mentioned; NA, not ascertained.