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 |