Table 2.

Genetic, clinical and neurophysiology details of patients with NFASC variants

Patient	1	2	3	4	5	6	7	8	9	10	Smigiel et al. (2018)	Monfrini et al. (2019)	Monfrini et al. (2019)
Gender	Male	Male	Female	Male	Male	Male	Male	Female	Female	Male	Female	Female	Male
Origin	Moroccan	American	American	Arab Iraqi	Israeli	Israeli	Saudi Arabian	Saudi Arabian	Algerian	Algerian	Polish	Italian	Italian
Current age	4 years	1 year and 6 months	10 years	3 years	12 years	16 years	2 years 6 months	4 months (at time of death)	21 years	16 years	1 year	22 years	15 years
Variant	c.2080C>A; p.P694T	c.2816delC; p.P939Ter	c.2816delC; p.P939Ter	c.388A>G; p.N130D	c.2458T>C; p.S820P	c.2458T>C; p.S820P	c.1076G>C; p.R359P	c.1076G>C; p.R359P	c.3230T>C: p.V1077A	c.3230T>C: p.V1077A	c.2491C>T; p.R831Ter	c.3365T>A; p.V1122E	c.3365T>A; p.V1122E
Age at onset of initial symptoms	Neonatal hypotonia	Neonatal hypotonia	Neonatal hypotonia	Neonatal hypotonia	Hypotonia during the first 6 months of life	Hypotonia during the first 2 months of life	Hypotonia during first 3 months of life	Hypotonia during first 3 months of life	Neonatal hypotonia	Hypotonia/ataxia started at 15–16 months	Congenital hypotonia, amimia, areflexia	Spastic limb hyperotnia, hyperreflexia	Episodes of aggression, intense anxiety
Developmental delay	+	+	+	+	+	+	+	+	+	+	+	+	+
Intellectual disability	+	+	+	+	+	+	+	+	+	+	_	_	+
Speech impairment	+	+	+	+	+	+	+	+	+	+	NA	+	+
Hypotonia / weakness	+	+	+	+	+	+	+	+	+	+	+	+	+
Neurological examination	Weakness, absent reflex, abnormal sensation, no walk	Weakness, absent reflex, no walk	Weakness, no walk	Weakness, no walk	Weakness, no walk	Weakness, no walk	Weakness, no walk	Weakness, no walk	No walk	Walk with a walking frame	Contractures of fingers and toes, no reaction to touch or pain	Psychomotor delay, cerebellar syndrome, hyperreflexia, spasticity, dysphagia, myoclonic jerks	Psychomotor delay, cerebellar syndrome, anxiety, aggression
Sensory NCS	Reduced CV, normal Amp	NT	NT	NT	SSR in hand and food	NT	Normal	NT	Normal CV, reduced Amp in ulnar nerve	Normal	reduced CV	Reduced CV (except normal CV and reduced Amp median nerve)	Marginally reduced CV
Motor NCS	Reduced CV (except normal CV ulnar nerve), normal Amp (except peroneal nerve reduced)	NT	Severely reduced CV, normal Amp (except peroneal nerve reduced)	NT	NT	NT	Normal	NT	Normal	Normal	NT	Reduced CV (except normal CV ulnar nerve)	Reduced CV
EMG	NT	NT	Acute and chronic denervation, PSW	NT	NT	NT	Normal	NT	Chronic denervation- reinnervation	Chronic denervation- reinnervation	NT	NT	NT
MRI	Atrophic changes and white matter loss	Cerebral white matter loss	Cerebral white matter loss. Severe atrophy of corpus callosum	NT	Normal	Normal	Diffuse white matter T2 hyperintensity	NT	Cerebellar atrophy	Cerebellar atrophy	Ischaemic and hypoxic changes	Mild cerebellar atrophy, mild diffuse white matter T2 hyperintensity	Mild diffuse white matter T2 hyperintensity

− = absent; + = present; Amp = amplitude; CV = conduction velocity/velocities; NA = not applicable; NCS = nerve conduction studies; NT = not tested; PSW = positive sharp waves; SSR = sympathetic skin response.