Skip to main content

Table 2 Molecular findings and neurological evaluation (neuroimaging, IQ, NPCRS and ICARS results)

From: Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

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
  1. 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
  2. aSee criteria in the text to include MRI in the analysis