Table 1. Striking similarities in the phenotype of mitochondrial diseases and Cockayne syndrome.

This is a list of signs and symptoms seen in Cockayne syndrome and whether that particular trait is also seen in mitochondrial diseases. The traits are ordered with the most prevalent first.

Clinical trait in CS	Seen in which mitochondrial diseases?
Sun sensitivity	None
Short stature	Alpers-Huttenlocher, MTDPS6, MELAS, MERFF, NARP, Coenzyme Q10 deficiency, MLASA2, ACADSD (Hammans et al. 1995; Holt et al. 1990; Karadimas et al. 2006; Kurt et al. 2010; Riley et al. 2010; Rosing et al. 1985; Rotig et al. 2007; Tein et al. 2008)
Weight loss	MNGIE, MLASA2 (Nishino et al. 2000; Riley et al. 2010)
Cerebral atrophy	Alpers-Huttenlocher, MERFF, NARP, MTDPS5, Coenzyme Q10 deficiency (Carrozzo et al. 2007; de Vries et al. 2007; Gelfand et al. 2011; Lorenzoni et al. 2011; Rotig et al. 2007)
Contractures	MTDPS5 (Elpeleg et al. 2005)
Lactic acidosis in the CNS	MTDPS8A, MTDPS5, MELAS, MTDPS9, Leigh syndrome, MTDPS6 (Bourdon et al. 2007; Carrozzo et al. 2007; Lorenzoni et al. 2009; Ostergaard et al. 2010; Rahman et al. 1996; Spinazzola et al. 2008)
Cerebellar atrophy	MERFF, NARP, MTDPS5, Coenzyme Q10 deficiency, IOSCA (Carrozzo et al. 2007; Gelfand et al. 2011; Koskinen et al. 1994; Lorenzoni et al. 2011; Rotig et al. 2007)
Peripheral neuropathy	ADOA, Friedreich ataxia, Leigh syndrome, MTDPS6, Leber optic atrophy, MERFF, NARP, MNGIE, MTDPS5, Coenzyme Q10 deficiency, SANDO, PEO autosomal dominant, IOSCA, LCHAD (Carrozzo et al. 2007; Gelfand et al. 2011; Koskinen et al. 1994; Lorenzoni et al. 2011; Nishino et al. 2000; Schulte et al. 2009; Yu-Wai-Man et al. 2010)
Basal ganglia pathology	Leigh syndrome, NARP, MTDPS5 (Carrozzo et al. 2007; Gelfand et al. 2011; Lee et al. 2009)
Leukodystrophy	MTDPS6, MNGIE (Karadimas et al. 2006; Nishino et al. 2000)
Dental caries	Friedreich ataxia, (Camm and Carpenter 1987)
Sensorineural hearing loss	ADOA, Alpers-Huttenlocher, Friedreich ataxia, DGUOK deficiency, MIDD, MELAS, MERFF, MNGIE, MTPS5, Coenzyme Q10 deficiency, SANDO, PEO autosomal dominant, Combined complex deficiency, IOSCA (Carrozzo et al. 2007; Di et al. 2009; Durr et al. 1996; Fratter et al. 2010; Freisinger et al. 2006; Guillausseau et al. 2001; Hammans et al. 1995; Koskinen et al. 1994; Kurt et al. 2010; Mancuso et al. 2004; Nishino et al. 2000; Rosing et al. 1985; Rotig et al. 2007; Yu-Wai-Man et al. 2010)
Xerophthalmus	ME (Zelnik et al. 1996)
Kyphosis	LHON (Huoponen 2001)
Retinitis pigmentosa	Leigh syndrome, MIDD, MELAS, NARP, MNGIE, Coenzyme Q10 deficiency, LCHAD (Hammans et al. 1995; Holt et al. 1990; Lee et al. 2009; Massin et al. 2008; Nishino et al. 2000; Rotig et al. 2007; Tyni et al. 1997)
Vomiting	DGUOK deficiency, Leigh syndrome, MELAS, MERFF, MNGIE, Coenzyme Q10 deficiency, ACADM, HADHSC, LCHAD (Bennett et al. 1996; Freisinger et al. 2006; Iafolla et al. 1994; Lee et al. 2009; Lorenzoni et al. 2009; Lorenzoni et al. 2011; Nishino et al. 2000; Rotig et al. 2007)
Ataxia 4	ADOA, Friedreich ataxia, Leigh syndrome, MTDPS6, MELAS, MERFF, NARP, Pearson syndrome, Coenzyme Q10 deficiency, SANDO, PDH deficiency, ACADSD, IOSCA(Durr et al. 1996; Hammans et al. 1995; Holt et al. 1990; Ito et al. 1992; Karadimas et al. 2006; Koskinen et al. 1994; Lee et al. 2007; Lorenzoni et al. 2011; Mancuso et al. 2004; Rahman et al. 1996; Rotig et al. 2007; Tein et al. 2008; Yu-Wai-Man et al. 2010)
Hypertension	MIDD (Guillausseau et al. 2001)
Tremor	LHON, NARP, Pearson syndrome, PEO autosomal dominant (Baloh et al. 2007; Gelfand et al. 2011; Huoponen 2001; Lee et al. 2007)
Pruritus	None
Cataracts	Sengers syndrome, Coenzyme Q10 deficiency, PEO autosomal dominant, Combined complex deficiency (Di et al. 2009; Fratter et al. 2010; Morava et al. 2004; Rotig et al. 2007)
Developmental delay	Alpers-Huttenlocher, DGUOK deficiency, Leigh syndrome, MTDPS6, MELAS, Pearson syndrome, MTDPS5, Coenzyme Q10 deficiency, PDH deficiency. Combined complex deficiency, MLASA2, ACADVL, ACADSD, MADD, LCHAD (Angle and Burton 2008; Aoyama et al. 1995; Di et al. 2009; Elpeleg et al. 2005; Freisinger et al. 2006; Karadimas et al. 2006; Kurt et al. 2010; Lee et al. 2007; Lee et al. 2009; Lorenzoni et al. 2009; Maj et al. 2005; Riley et al. 2010; Rotig et al. 2007; Tein et al. 2008; Tyni et al. 1997)
Optic atrophy	ADOA, Alpers-Huttenlocher, Leigh syndrome, LHON, NARP, CoenzymeQ10 deficiency, IOSCA (Holt et al. 1990; Koskinen et al. 1994; Kurt et al. 2010; Lodi et al. 2011; Nikoskelainen et al. 1985; Rahman et al. 1996; Rotig et al. 2007)
Nystagmus	Friedreich ataxia, DGUOK deficiency, Leigh syndrome, MTDPS6, NARP, Coenzyme Q10 deficiency, Combined complex deficiency, ACADVL (Aoyama et al. 1995; Di et al. 2009; Durr et al. 1996; Gelfand et al. 2011; Rahman et al. 1996; Rotig et al. 2007; Spinazzola et al. 2008; Taanman et al. 2002)
Hyperactive reflexes	Leigh syndrome, MERFF (Rahman et al. 1996; Rosing et al. 1985)
Seizures	Alpers-Huttenlocher, Leigh syndrome, MTDPS6, LHON, MELAS, MERFF, MTDPS5, Coenzyme Q10 deficiency, SANDO, PDH deficiency, TK2, deficiency, ACADM, MADD, IOSCA, LCHAD (Angle and Burton 2008; Diomedi-Camassei et al. 2007; Elpeleg et al. 2005; Gotz et al. 2008; Huoponen 2001; Iafolla et al. 1994; Ito et al. 1992; Karadimas et al. 2006; Kurt et al. 2010; Lee et al. 2009; Lonnqvist et al. 2009; Lorenzoni et al. 2009; Lorenzoni et al. 2011; Tyni et al. 1997; Winterthun et al. 2005)
Areflexia	Friedreich ataxia, MTDPS6, NARP, MNGIE, TK2 deficiency, Combined complex deficiency, IOSCA, LCHAD (Di et al. 2009; Durr et al. 1996; Gotz et al. 2008; Holt et al. 1990; Karadimas et al. 2006; Koskinen et al. 1994; Nishino et al. 2000; Tyni et al. 1997)