Report of a Patient with Multiple Mutations Leading to Charcot-Marie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report
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Abstract
The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs. There are several types of Charcot-Marie-Tooth and multiple genes are associated with this disease. Distal spinal muscular atrophy is an extremely rare disorder characterized by progressive pure lower motor neuron involvement. A 24 yr old woman using wheelchair referred to Farhud Genetic Clinic, Tehran, Iran in 2019, with progressive muscular atrophy, pain and Electromyography test suggesting Charcot-Marie-tooth. Both feet and hands were involved. Whole exome sequencing was performed on extracted DNA from her blood sample. We report the first case of a patient with different types of Charcot-Marie-Tooth and distal spinal muscular atrophy simultaneously, which are as a result of mutations in multiple genes; this case is very uncommon.
1. Charcot J, Marie P (1886). Sur une forme particuliore d'atrophie musculaire progressive, souvent familiale d6butant par les pieds et les jambes et atteignant plus tards les mains. Rev Med (Paris), 6:97-138.
2. Tooth HH (1886). The peroneal type of progressive muscular atrophy: A thesis for the degree of MD in the University of Cambridge. ed. HK Lewis.
3. Skre H (1974). Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease. Clin Genet, 6:98-118.
4. Barreto LCLS, Oliveira FS, Nunes PS et al (2016). Epidemiologic study of Charcot-Marie-Tooth disease: a systematic review. Neuroepidemiology, 46:157-165.
5. Cordeiro JL, Marques Jr W, Hallak JE, Osório FL (2014). Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review. ASN Neuro, 6(3):185-92.
6. Liu H, Wu C (2017). Charcot Marie Tooth 2B peripheral sensory neuropathy: How Rab7 mutations impact NGF signaling? Int J Mol Sci, 18:324.
7. Liu L, Zhang R (2014). Intermediate Charcot-Marie-Tooth disease. Neurosci Bull, 30:999-1009.
8. Bird TD (1998). Charcot-Marie-Tooth Neuropathy Type 1Aug 31 [Updated 2015 Mar 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1205/
9. Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A (2008). Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance. Clin Neuropathol, 27(1):1-12.
10. Pareyson D, Marchesi C (2009). Diagnosis, natural history, and management of Charcot–Marie–Tooth disease. Lancet Neurol, 8:654-667.
11. Pareyson D, Marchesi C (2009). Natural history and treatment of peripheral inherited neuropathies. In: Inherited Neuromuscular Diseases. Ed(s): Springer, pp. 207-224.
12. Pareyson D, Scaioli V, Laura M (2006). Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Med, 8:3-22.
13. Bansagi B, Griffin H, Whittaker RG et al (2017). Genetic heterogeneity of motor neuropathies. Neurology, 88:1226-1234.
14. Muthukrishnan J, Varadarajulu R, Mehta S, Singh A (2003). Distal spinal muscular atrophy. J Assoc Physicians India, 51:113-5.
15. Hua Y, Liu YH, Sahashi K et al (2015). Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models. Genes Dev, 29:288-297.
16. Bouhouche A, Birouk N, Azzedine H et al (2007). Autosomal recessive axonal Charcot–Marie–Tooth disease (ARCMT2): phenotype–genotype correlations in 13 Moroccan families. Brain, 130:1062-1075.
17. Malissovas N, Griffin LB, Antonellis A, Beis D (2016). Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease. Hum Mol Genet, 25:1528-1542.
18. Morelli KH, Seburn KL, Schroeder DG et al (2017). Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes. Cell Rep, 18:3178-3191.
19. Azzedine H, Zavadakova P, Planté-Bordeneuve V et al (2013). PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease. Hum Mol Genet, 22:4224-4232.
20. Brewer MH, Ma KH, Beecham GW et al (2014). Haplotype-specific modulation of a SOX10/CREB response element at the Charcot–Marie–Tooth disease type 4C locus SH3TC2. Hum Mol Genet, 23:5171-5187.
21. Marchesi C, Milani M, Morbin M et al (2010). Four novel cases of periaxin-related neuropathy and review of the literature. Neurology, 75:1830-8.
2. Tooth HH (1886). The peroneal type of progressive muscular atrophy: A thesis for the degree of MD in the University of Cambridge. ed. HK Lewis.
3. Skre H (1974). Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease. Clin Genet, 6:98-118.
4. Barreto LCLS, Oliveira FS, Nunes PS et al (2016). Epidemiologic study of Charcot-Marie-Tooth disease: a systematic review. Neuroepidemiology, 46:157-165.
5. Cordeiro JL, Marques Jr W, Hallak JE, Osório FL (2014). Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review. ASN Neuro, 6(3):185-92.
6. Liu H, Wu C (2017). Charcot Marie Tooth 2B peripheral sensory neuropathy: How Rab7 mutations impact NGF signaling? Int J Mol Sci, 18:324.
7. Liu L, Zhang R (2014). Intermediate Charcot-Marie-Tooth disease. Neurosci Bull, 30:999-1009.
8. Bird TD (1998). Charcot-Marie-Tooth Neuropathy Type 1Aug 31 [Updated 2015 Mar 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1205/
9. Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A (2008). Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance. Clin Neuropathol, 27(1):1-12.
10. Pareyson D, Marchesi C (2009). Diagnosis, natural history, and management of Charcot–Marie–Tooth disease. Lancet Neurol, 8:654-667.
11. Pareyson D, Marchesi C (2009). Natural history and treatment of peripheral inherited neuropathies. In: Inherited Neuromuscular Diseases. Ed(s): Springer, pp. 207-224.
12. Pareyson D, Scaioli V, Laura M (2006). Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Med, 8:3-22.
13. Bansagi B, Griffin H, Whittaker RG et al (2017). Genetic heterogeneity of motor neuropathies. Neurology, 88:1226-1234.
14. Muthukrishnan J, Varadarajulu R, Mehta S, Singh A (2003). Distal spinal muscular atrophy. J Assoc Physicians India, 51:113-5.
15. Hua Y, Liu YH, Sahashi K et al (2015). Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models. Genes Dev, 29:288-297.
16. Bouhouche A, Birouk N, Azzedine H et al (2007). Autosomal recessive axonal Charcot–Marie–Tooth disease (ARCMT2): phenotype–genotype correlations in 13 Moroccan families. Brain, 130:1062-1075.
17. Malissovas N, Griffin LB, Antonellis A, Beis D (2016). Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease. Hum Mol Genet, 25:1528-1542.
18. Morelli KH, Seburn KL, Schroeder DG et al (2017). Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes. Cell Rep, 18:3178-3191.
19. Azzedine H, Zavadakova P, Planté-Bordeneuve V et al (2013). PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease. Hum Mol Genet, 22:4224-4232.
20. Brewer MH, Ma KH, Beecham GW et al (2014). Haplotype-specific modulation of a SOX10/CREB response element at the Charcot–Marie–Tooth disease type 4C locus SH3TC2. Hum Mol Genet, 23:5171-5187.
21. Marchesi C, Milani M, Morbin M et al (2010). Four novel cases of periaxin-related neuropathy and review of the literature. Neurology, 75:1830-8.
| Files | ||
| Issue | Vol 49 No 3 (2020) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/ijph.v49i3.3157 | |
| Keywords | ||
| Charcot-marie-tooth Distal spinal muscular atrophy; Neuropathy | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
MEHRABI A, FARHUD DD, NAYERNIA K, SADIGHI H, ZARIF-YEGANEH M. Report of a Patient with Multiple Mutations Leading to Charcot-Marie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report. Iran J Public Health. 2020;49(3):588-592.
