Table 2.

Studies reporting cases with the variant c.1325G>A;p.R442Q.

STUDY	AGE/AAO/SEX/TYPE*	PRESENTATION	INVESTIGATIONS
Caciotti et al, 2005	27/5/NA/Adult	Short stature, ataxia, speech deterioration, bilateral clubfoot, corneal opacity, normal IQ	Other variant: c.985A>G;p.T329A MRI: Mild hyperintensity in the posterior periventricular white matter and mild alteration in the lenticular nuclei GLB1 activity: 4.1 in leukocytes
Hofer et al, 2009	30/11/NA/Juvenile	CNS and skeletal involvement with no cherry red spot, cardiac involvement, or hepatosplenomegaly	Other variant: c.986C>T;p.T329L MRI: NA GLB1: NA
Hofer et al, 2010	16/4/NA/Adult	CNS and skeletal involvement with no cherry red spot, cardiac involvement, or hepatosplenomegaly	Other variant: c.1077delA;p.K359Kfs*23 MRI: NA GLB1 activity: 5–15 in leucocytes
Caciotti et al, 2011	9/4/Female/Juvenile	Dysarthria, tremor, ataxia, borderline IQ, dystonia, stiffness. No eye abnormality/organomegaly	Other variant: c.275G>A;p.W92* MRI: NA GLB1 activity: 2 in leucocytes; 7.5 in fibroblasts
Kumar et al, 2016	20/Infancy/Female/NA	Spastic limbs, limb dystonia, developmental delay, marked speech disturbance, and unable to mobilise.	Other variant: c.553–2A>G
	18/Infancy/Female/NA	Spastic limbs, limb dystonia, developmental delay, marked speech disturbance, unable to mobilise
	12/Infancy/Male/NA	Spastic gait, limb dystonia, developmental delay, drooling of saliva. No organomegaly or skeletal manifestations	MRI: globus pallid hypointensities were evident on repeat evaluation GLB1 activity: 1.6 in leucocytes

*: Reported type in the original article.

AAO: Age at onset; CNS: Central nervous system; IQ: Intelligent quotient; MRI: Magnetic resonance imaging; NA: Not available.