Table 2.

Molecular findings and neurological evaluation (neuroimaging, IQ, NPCRS and ICARS results)

Patient/Sex	1 Male	2 Female	3 Female	4 Male	5 Male	6 Female	7 Female	8 Male	9 Female	10 Female	11 Female	12 Female	13 Male
Molecular findings	p.E93A/p.R141H	p.R123Q/p.C241S	p.F157S/p.C241S	p.L32R/p.R141H	p.R162W/c.523 + 3A > G	p.F157S/p.R162W	p.P113L/p.D209G	p.C241S/p.R141H	p.T237M/c.640-9 T > G	p.P113L/c.353C > T + c.550C > A	p.R123X/p.I153T	p.P113L/p.P113L	p.E139K/p.E139K
Age at evaluation	15 years	6 years	8 years	7 years	10 years	10 years	11 years	5 years	11 years	8 years	16 years	6 years	11 years
Peripheral neuropathy	Motor-sensory axonal neuropathy	No NC/↓DTR	No NC/↓DTR	No	No NC/↓DTR	Slow nerve conduction	No	No NC/↓DTR	No NC/↓DTR	Slow nerve conduction velocity	Slow nerve conduction velocity	No NC/↓DTR	No NC/↓DTR
Epilepsy	No	No	No	No	No	No	No	No	No	No	No	No	Yes
Psychometric evaluation	IQ 91 (WISC-IV)	ND	IQ 89 (WISC-IV)	ND	IQ 78 (K-BIT)	IQ 59 (WISC-IV)	ND	ND	ND	IQ 66 (K-BIT)	IQ 40 (K-BIT)	ND	ND
MRI findings	Mild prominence cerebellar folia	Cerebellar vermis atrophy	Global cerebellar atrophy	ND	Global cerebellar atrophy	Global cerebellar atrophy	Global cerebellar atrophy	Global cerebellar atrophy	Cerebellar vermis atrophy	Global cerebellar atrophy, juxtacortical signal change	Global cerebellar atrophy with pons atrophy	Global cerebellar atrophy	Global cerebellar and pons atrophy, ventricular enlargement
MRI MVRD	67 %	46 %	No recent MRIa	No recent MRIa	49 %	46 %	35 %	No recent MRIa	No recent MRIa	35 %	29 %	36 %	28 %
NPCRS	6	8	8	12	8	11	20	13	16	18	22	16	27
ICARS	4	10	17	18	23	34	47	50	60	61	62	70	79

NC Nerve conduction studies, DTR Deep tendon reflexes, IQ Intelligence quotient, WISC-IV Wechsler Intelligence Scale for Children, Fourth edition, K-BIT Kaufman Brief Intelligence Test, Second edition, MVRD midsagittal vermis relative diameter, NPCRS Nijmegen Pediatric CDG Rating Score, ICARS International Cerebellar Assessment Rating Scale

^aSee criteria in the text to include MRI in the analysis