A Novel Family with Demyelinating Charcot–Marie–Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature
Abstract
:1. Introduction
2. Results
3. Discussion
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
Abbreviations
CMT | Charcot–Marie–Tooth |
NCV | nerve conduction velocity |
MBP | myelin basic protein |
MPZ | myelin protein zero |
PMP22 | peripheral myelin protein 22 |
PMP2 | peripheral myelin protein 2 |
NGS | next generation sequencing |
PNS | peripheral nervous system |
References
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ID Patient | M/F | Age at Onset (Years) | Age at Genetic Diagnosis (Years) | Signs and Symptoms | ENG | MRI | AEP | Genotipic | AD/AR/X-LINKED | Method | Reported in Literature |
---|---|---|---|---|---|---|---|---|---|---|---|
IV-2 | M | 2 | 16 | bilateral pes cavus, abolished deep tendon reflex, mild lower limbs distal weakness, postural tremor | diffuse and symmetric slowing motor and sensory nerve conduction velocities (NCV: 25–30 m/s) | normal | normal | c.147_149delTAT of gene PMP2 | AD | targeted NGS | YES |
IV-1 | F | 5 | 13 | bilateral pes cavus, abolished deep tendon reflex, mild lower limbs distal weakness, postural tremor, sensitive impairment with lower limbs dysesthesia | symmetric slowing motor nerve conduction velocities 25–30 m/s, undetectable sensory potentials | normal | normal | c.147_149delTAT of gene PMP2 | AD | direct Sanger sequencing | YES |
III-1 | M | unknown | 55 | bilateral pes cavus and hammer toes, areflexia and lower extremity weakness | motor nerve conduction velocities < 20 m/s, undetectable sensitive potentials | normal | normal | c.147_149delTAT of gene PMP2 | AD | direct Sanger sequencing | YES |
IV-4 | M | 7 | 8 | bilateral pes cavus, absence of deep tendon reflexes, gait impairment and distal weakness with walking difficulties. Distal postural tremor, worsening with movements. Back pain | symmetric slowing motor nerve conduction velocities (NCV: 25–30 m/s), undetectable sensory potentials | normal | normal | c.147_149delTAT of gene PMP2 | AD | direct Sanger sequencing | YES |
IV-3 | M | 2 | 13 | mild high arched feet, areflexia, distal postural tremor worsening with movements, mild muscular atrophy of the anterior compartments of the lower legs and feet | symmetric slowing motor nerve conduction velocities (NCV: 25–30 m/s), undetectable sensory potentials | normal | normal | c.147_149delTAT of gene PMP2 | AD | direct Sanger sequencing | YES |
III-3 | F | unknown | 54 | bilateral pes cavus with hammer toes, areflexia, severe distal weakness and thenar eminence hypotrophy associated with paresthesia | not available | normal | normal | c.147_149delTAT of gene PMP2 | AD | direct Sanger sequencing | YES |
III-2 | F | unknown | 57 | bilateral pes cavus, areflexia, severe distal weakness | not available | normal | normal | c.147_149delTAT of gene PMP2 | AD | direct Sanger sequencing | YES |
III-4 | F | unknown | 49 | pes cavus, areflexia, distal hypoesthesia and scoliosis | not available | normal | normal, scoliosis | c.147_149delTAT of gene PMP2 | AD | direct Sanger sequencing | YES |
II-1 | F | unknown | 96 | bilateral pes cavus, areflexia, distal lower limb atrophy | motor nerve conduction velocities < 20 m/s, undetectable sensitive potentials | not performed | not performed | c.147_149delTAT of gene PMP2 | AD | direct Sanger sequencing | YES |
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Baga, M.; Rizzi, S.; Spagnoli, C.; Frattini, D.; Pisani, F.; Fusco, C. A Novel Family with Demyelinating Charcot–Marie–Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature. Children 2023, 10, 901. https://doi.org/10.3390/children10050901
Baga M, Rizzi S, Spagnoli C, Frattini D, Pisani F, Fusco C. A Novel Family with Demyelinating Charcot–Marie–Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature. Children. 2023; 10(5):901. https://doi.org/10.3390/children10050901
Chicago/Turabian StyleBaga, Margherita, Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, and Carlo Fusco. 2023. "A Novel Family with Demyelinating Charcot–Marie–Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature" Children 10, no. 5: 901. https://doi.org/10.3390/children10050901