An Elderly Woman with Complaints of Pain and Hearing Loss, Diagnosed with CMT1A with PMP22 Duplication

Charcot-Marie-Tooth (CMT) disease is a heterogeneous hereditary motor and sensory neuropathy of the peripheral nervous system, with CMT1A in particular being the most common form. We encountered a 76-year-old woman with CMT1A who had a history of pain attacks and hearing loss from a young age, with...

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Published inInternal Medicine Vol. 63; no. 2; pp. 315 - 318
Main Authors Hamada, Masashi, Sakuishi, Kaori, Yamaguchi-Takegami, Nanaka, Toda, Tatsushi, Takegami, Naoki
Format Journal Article
LanguageEnglish
Published Japan The Japanese Society of Internal Medicine 15.01.2024
Japan Science and Technology Agency
Subjects
Aged
Case Report
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Disease - complications
Charcot-Marie-Tooth Disease - diagnosis
Charcot-Marie-Tooth Disease - genetics
CMT1A
Deafness
Female
Hearing loss
Hearing Loss - etiology
Hearing Loss - genetics
Hereditary Sensory and Motor Neuropathy
Humans
Myelin Proteins - genetics
nerve conduction study
Nervous system
Neuropathy
Pain
Peripheral myelin protein 22
Peripheral neuropathy
PMP22
PMP22
nerve conduction study
pain
hearing loss
CMT1A
Online AccessGet full text
ISSN0918-2918
1349-7235
1349-7235
DOI10.2169/internalmedicine.1883-23

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Abstract Charcot-Marie-Tooth (CMT) disease is a heterogeneous hereditary motor and sensory neuropathy of the peripheral nervous system, with CMT1A in particular being the most common form. We encountered a 76-year-old woman with CMT1A who had a history of pain attacks and hearing loss from a young age, with motor symptoms manifesting late in life. Her pain and hearing loss may have been related to CMT. Our case also raises the possibility that neuropathic pain and hearing loss may precede the classic motor symptoms of CMT1A.
AbstractList Charcot-Marie-Tooth (CMT) disease is a heterogeneous hereditary motor and sensory neuropathy of the peripheral nervous system, with CMT1A in particular being the most common form. We encountered a 76-year-old woman with CMT1A who had a history of pain attacks and hearing loss from a young age, with motor symptoms manifesting late in life. Her pain and hearing loss may have been related to CMT. Our case also raises the possibility that neuropathic pain and hearing loss may precede the classic motor symptoms of CMT1A.
Charcot-Marie-Tooth (CMT) disease is a heterogeneous hereditary motor and sensory neuropathy of the peripheral nervous system, with CMT1A in particular being the most common form. We encountered a 76-year-old woman with CMT1A who had a history of pain attacks and hearing loss from a young age, with motor symptoms manifesting late in life. Her pain and hearing loss may have been related to CMT. Our case also raises the possibility that neuropathic pain and hearing loss may precede the classic motor symptoms of CMT1A.Charcot-Marie-Tooth (CMT) disease is a heterogeneous hereditary motor and sensory neuropathy of the peripheral nervous system, with CMT1A in particular being the most common form. We encountered a 76-year-old woman with CMT1A who had a history of pain attacks and hearing loss from a young age, with motor symptoms manifesting late in life. Her pain and hearing loss may have been related to CMT. Our case also raises the possibility that neuropathic pain and hearing loss may precede the classic motor symptoms of CMT1A.
ArticleNumber 1883-23
Author Sakuishi, Kaori
Yamaguchi-Takegami, Nanaka
Toda, Tatsushi
Takegami, Naoki
Hamada, Masashi
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Cites_doi 10.1111/j.1399-0004.2011.01657.x
10.1016/j.pcl.2015.03.012
10.1016/j.nmd.2004.02.009
10.1002/mus.24169
10.1136/jnnp.2008.158295
10.1007/s10072-012-1277-5
10.1038/s41598-018-28501-y
10.1038/ng0692-171
10.1016/j.pain.2010.03.001
10.1097/01.mao.0000169769.93173.df
10.1093/brain/aws085
10.1590/0004-282x20180021
10.1007/s12031-020-01488-w
10.1016/j.nmd.2017.08.007
10.2147/JMDH.S69979
10.1007/s10072-019-04142-5
10.1111/ane.12013
10.1007/s00415-005-0797-9
10.1002/mgg3.839
10.1111/j.1468-1331.2010.03037.x
10.1038/jhg.2011.20
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Keywords PMP22
nerve conduction study
pain
hearing loss
CMT1A
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Correspondence to Dr.　Masashi Hamada, mhamada@m.u-tokyo.ac.jp
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References 18. Verhagen WI, Huygen PL, Gabreëls-Festen AA, Engelhart M, van Mierlo PJ, van Engelen BG. Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations. Otol Neurotol 26: 405-414, 2005.
19. Lerat J, Magdelaine C, Roux AF, et al. Hearing loss in inherited peripheral neuropathies: molecular diagnosis by NGS in a French series. Mol Genet Genomic Med 7: e839, 2019.
20. Nagappa M, Sharma S, Govindaraj P, et al. PMP22 gene-associated neuropathies: phenotypic spectrum in a cohort from India. J Mol Neurosci 70: 778-789, 2020.
3. Braathen GJ. Genetic epidemiology of Charcot-Marie-Tooth disease. Acta Neurol Scand 126: 1-22, 2012.
4. Karadima G, Floroskufi P, Koutsis G, Vassilopoulos D, Panas M. Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients. Clin Genet 80: 497-499, 2011.
21. Milley GM, Varga ET, Grosz Z, et al. Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients. Neuromuscul Disord 28: 38-43, 2018.
13. Pazzaglia C, Vollono C, Ferraro D, et al. Mechanisms of neuropathic pain in patients with Charcot-Marie-Tooth 1 A: a laser-evoked potential study. Pain 149: 379-385, 2010.
8. Braathen GJ, Sand JC, Lobato A, Høyer H, Russell MB. Genetic epidemiology of Charcot-Marie-Tooth in the general population. Eur J Neurol 18: 39-48, 2011.
9. McCorquodale D, Pucillo EM, Johnson NE. Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. J Multidiscip Healthc 9: 7-19, 2016.
6. Abe A, Numakura C, Kijima K, et al. Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. J Hum Genet 56: 364-368, 2011.
7. Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. J Neurol Neurosurg Psychiatry 80: 1304-1314, 2009.
1. Timmerman V, Nelis E, Van Hul W, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1: 171-175, 1992.
15. Azevedo H, Pupe C, Pereira R, Nascimento OJM. Pain in Charcot-Marie-Tooth disease: an update. Arq Neuropsiquiatr 76: 273-276, 2018.
5. Marques W Jr, Freitas MR, Nascimento OJ, et al. 17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population. J Neurol 252: 972-979, 2005.
14. Laurà M, Hutton EJ, Blake J, et al. Pain and small fiber function in Charcot-Marie-Tooth disease type 1A. Muscle Nerve 50: 366-371, 2014.
11. Rance G, Ryan MM, Bayliss K, et al. Auditory function in children with Charcot-Marie-Tooth disease. Brain 135: 1412-1422, 2012.
17. Luigetti M, Zollino M, Conti G, Romano A, Sabatelli M. Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature. Neurol Sci 34: 1705-1707, 2013.
2. Bjelica B, Peric S, Basta I, et al. Neuropathic pain in patients with Charcot-Marie-Tooth type 1A. Neurol Sci 41: 625-630, 2020.
10. Choi JE, Seok JM, Ahn J, et al. Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A. Sci Rep 8: 10335, 2018.
12. Jani-Acsadi A, Ounpuu S, Pierz K, Acsadi G. Pediatric Charcot-Marie-Tooth disease. Pediatr Clin North Am 62: 767-786, 2015.
16. Joo IS, Ki CS, Joo SY, Huh K, Kim JW. A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness. Neuromuscul Disord 14: 325-328, 2004.
11
12
13
14
15
16
17
18
19
1
2
3
4
5
6
7
8
9
20
10
21
References_xml – reference: 5. Marques W Jr, Freitas MR, Nascimento OJ, et al. 17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population. J Neurol 252: 972-979, 2005.
– reference: 17. Luigetti M, Zollino M, Conti G, Romano A, Sabatelli M. Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature. Neurol Sci 34: 1705-1707, 2013.
– reference: 1. Timmerman V, Nelis E, Van Hul W, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1: 171-175, 1992.
– reference: 14. Laurà M, Hutton EJ, Blake J, et al. Pain and small fiber function in Charcot-Marie-Tooth disease type 1A. Muscle Nerve 50: 366-371, 2014.
– reference: 7. Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. J Neurol Neurosurg Psychiatry 80: 1304-1314, 2009.
– reference: 12. Jani-Acsadi A, Ounpuu S, Pierz K, Acsadi G. Pediatric Charcot-Marie-Tooth disease. Pediatr Clin North Am 62: 767-786, 2015.
– reference: 11. Rance G, Ryan MM, Bayliss K, et al. Auditory function in children with Charcot-Marie-Tooth disease. Brain 135: 1412-1422, 2012.
– reference: 9. McCorquodale D, Pucillo EM, Johnson NE. Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. J Multidiscip Healthc 9: 7-19, 2016.
– reference: 20. Nagappa M, Sharma S, Govindaraj P, et al. PMP22 gene-associated neuropathies: phenotypic spectrum in a cohort from India. J Mol Neurosci 70: 778-789, 2020.
– reference: 15. Azevedo H, Pupe C, Pereira R, Nascimento OJM. Pain in Charcot-Marie-Tooth disease: an update. Arq Neuropsiquiatr 76: 273-276, 2018.
– reference: 3. Braathen GJ. Genetic epidemiology of Charcot-Marie-Tooth disease. Acta Neurol Scand 126: 1-22, 2012.
– reference: 10. Choi JE, Seok JM, Ahn J, et al. Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A. Sci Rep 8: 10335, 2018.
– reference: 6. Abe A, Numakura C, Kijima K, et al. Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. J Hum Genet 56: 364-368, 2011.
– reference: 8. Braathen GJ, Sand JC, Lobato A, Høyer H, Russell MB. Genetic epidemiology of Charcot-Marie-Tooth in the general population. Eur J Neurol 18: 39-48, 2011.
– reference: 13. Pazzaglia C, Vollono C, Ferraro D, et al. Mechanisms of neuropathic pain in patients with Charcot-Marie-Tooth 1 A: a laser-evoked potential study. Pain 149: 379-385, 2010.
– reference: 16. Joo IS, Ki CS, Joo SY, Huh K, Kim JW. A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness. Neuromuscul Disord 14: 325-328, 2004.
– reference: 18. Verhagen WI, Huygen PL, Gabreëls-Festen AA, Engelhart M, van Mierlo PJ, van Engelen BG. Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations. Otol Neurotol 26: 405-414, 2005.
– reference: 19. Lerat J, Magdelaine C, Roux AF, et al. Hearing loss in inherited peripheral neuropathies: molecular diagnosis by NGS in a French series. Mol Genet Genomic Med 7: e839, 2019.
– reference: 2. Bjelica B, Peric S, Basta I, et al. Neuropathic pain in patients with Charcot-Marie-Tooth type 1A. Neurol Sci 41: 625-630, 2020.
– reference: 21. Milley GM, Varga ET, Grosz Z, et al. Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients. Neuromuscul Disord 28: 38-43, 2018.
– reference: 4. Karadima G, Floroskufi P, Koutsis G, Vassilopoulos D, Panas M. Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients. Clin Genet 80: 497-499, 2011.
– ident: 4
  doi: 10.1111/j.1399-0004.2011.01657.x
– ident: 12
  doi: 10.1016/j.pcl.2015.03.012
– ident: 16
  doi: 10.1016/j.nmd.2004.02.009
– ident: 14
  doi: 10.1002/mus.24169
– ident: 7
  doi: 10.1136/jnnp.2008.158295
– ident: 17
  doi: 10.1007/s10072-012-1277-5
– ident: 10
  doi: 10.1038/s41598-018-28501-y
– ident: 1
  doi: 10.1038/ng0692-171
– ident: 13
  doi: 10.1016/j.pain.2010.03.001
– ident: 18
  doi: 10.1097/01.mao.0000169769.93173.df
– ident: 11
  doi: 10.1093/brain/aws085
– ident: 15
  doi: 10.1590/0004-282x20180021
– ident: 20
  doi: 10.1007/s12031-020-01488-w
– ident: 21
  doi: 10.1016/j.nmd.2017.08.007
– ident: 9
  doi: 10.2147/JMDH.S69979
– ident: 2
  doi: 10.1007/s10072-019-04142-5
– ident: 3
  doi: 10.1111/ane.12013
– ident: 5
  doi: 10.1007/s00415-005-0797-9
– ident: 19
  doi: 10.1002/mgg3.839
– ident: 8
  doi: 10.1111/j.1468-1331.2010.03037.x
– ident: 6
  doi: 10.1038/jhg.2011.20
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Case Report
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Disease - complications
Charcot-Marie-Tooth Disease - diagnosis
Charcot-Marie-Tooth Disease - genetics
CMT1A
Deafness
Female
Hearing loss
Hearing Loss - etiology
Hearing Loss - genetics
Hereditary Sensory and Motor Neuropathy
Humans
Myelin Proteins - genetics
nerve conduction study
Nervous system
Neuropathy
Pain
Peripheral myelin protein 22
Peripheral neuropathy
PMP22
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