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
APA StyleBaga, M., Rizzi, S., Spagnoli, C., Frattini, D., Pisani, F., & Fusco, C. (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(5), 901. https://doi.org/10.3390/children10050901