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Autosomal recessive hereditary demyelinating motor and sensory neuropathy

MedGen UID:
1842852
•Concept ID:
C5680677
•
Disease or Syndrome
Orphanet: ORPHA140459

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive hereditary demyelinating motor and sensory neuropathy

Professional guidelines

PubMed

Genetic evaluation of inherited motor/sensory neuropathy.
Chance PF
Suppl Clin Neurophysiol 2004;57:228-42. doi: 10.1016/s1567-424x(09)70360-5. PMID: 16106622

Recent clinical studies

Etiology

Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.
Ahmed AN, Rawlins LE, Khan N, Jan Z, Ubeyratna N, Voutsina N, Azeem A, Khan S, Baple EL, Crosby AH, Saleha S
BMC Neurol 2024 Oct 16;24(1):394. doi: 10.1186/s12883-024-03882-y. PMID: 39415096Free PMC Article
Autosomal recessive Charcot-Marie-Tooth neuropathy.
Espinós C, Calpena E, Martínez-Rubio D, Lupo V
Adv Exp Med Biol 2012;724:61-75. doi: 10.1007/978-1-4614-0653-2_5. PMID: 22411234
Diagnosis of Charcot-Marie-Tooth disease.
Banchs I, Casasnovas C, Albertí A, De Jorge L, Povedano M, Montero J, Martínez-Matos JA, Volpini V
J Biomed Biotechnol 2009;2009:985415. Epub 2009 Oct 8 doi: 10.1155/2009/985415. PMID: 19826499Free PMC Article
Charcot-Marie-tooth disease.
Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G
Foot Ankle Spec 2008 Dec;1(6):350-4. Epub 2008 Oct 22 doi: 10.1177/1938640008326247. PMID: 19825739
Hereditary demyelinating motor and sensory neuropathy.
Gabreëls-Festen A, Gabreëls F
Brain Pathol 1993 Apr;3(2):135-46. doi: 10.1111/j.1750-3639.1993.tb00738.x. PMID: 8293175

Diagnosis

Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update.
Tazir M, Hamadouche T, Nouioua S, Mathis S, Vallat JM
J Neurol Sci 2014 Dec 15;347(1-2):14-22. Epub 2014 Oct 16 doi: 10.1016/j.jns.2014.10.013. PMID: 25454638
Early onset (childhood) monogenic neuropathies.
Landrieu P, Baets J
Handb Clin Neurol 2013;115:863-91. doi: 10.1016/B978-0-444-52902-2.00049-7. PMID: 23931819
Diagnosis of Charcot-Marie-Tooth disease.
Banchs I, Casasnovas C, Albertí A, De Jorge L, Povedano M, Montero J, Martínez-Matos JA, Volpini V
J Biomed Biotechnol 2009;2009:985415. Epub 2009 Oct 8 doi: 10.1155/2009/985415. PMID: 19826499Free PMC Article
Charcot-Marie-tooth disease.
Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G
Foot Ankle Spec 2008 Dec;1(6):350-4. Epub 2008 Oct 22 doi: 10.1177/1938640008326247. PMID: 19825739
Dominantly inherited peripheral neuropathies.
Vallat JM
J Neuropathol Exp Neurol 2003 Jul;62(7):699-714. doi: 10.1093/jnen/62.7.699. PMID: 12901697

Therapy

Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update.
Tazir M, Hamadouche T, Nouioua S, Mathis S, Vallat JM
J Neurol Sci 2014 Dec 15;347(1-2):14-22. Epub 2014 Oct 16 doi: 10.1016/j.jns.2014.10.013. PMID: 25454638

Prognosis

Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
Cantarero L, García-Vargas G, Hoenicka J, Palau F
Biol Open 2023 Apr 15;12(4) Epub 2023 Apr 3 doi: 10.1242/bio.059707. PMID: 36912213Free PMC Article
A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.
Pravinbabu P, Holla VV, Phulpagar P, Kamble N, Netravathi M, Yadav R, Pal PK, Muthusamy B
Neurol Sci 2022 Jul;43(7):4463-4472. Epub 2022 Feb 11 doi: 10.1007/s10072-022-05893-4. PMID: 35149926
Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy.
Shi J, Zhao F, Pang X, Huang S, Wang J, Chang X, Zhang J, Liu Y, Guo J, Zhang W
Neuromuscul Disord 2021 Feb;31(2):149-157. Epub 2020 Nov 18 doi: 10.1016/j.nmd.2020.11.002. PMID: 33323309
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D, Saveri P, Sagnelli A, Piscosquito G
Neurosci Lett 2015 Jun 2;596:66-77. Epub 2015 Apr 3 doi: 10.1016/j.neulet.2015.04.001. PMID: 25847151
Charcot-Marie-tooth disease.
Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G
Foot Ankle Spec 2008 Dec;1(6):350-4. Epub 2008 Oct 22 doi: 10.1177/1938640008326247. PMID: 19825739

Clinical prediction guides

Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
Cantarero L, García-Vargas G, Hoenicka J, Palau F
Biol Open 2023 Apr 15;12(4) Epub 2023 Apr 3 doi: 10.1242/bio.059707. PMID: 36912213Free PMC Article
A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.
Pravinbabu P, Holla VV, Phulpagar P, Kamble N, Netravathi M, Yadav R, Pal PK, Muthusamy B
Neurol Sci 2022 Jul;43(7):4463-4472. Epub 2022 Feb 11 doi: 10.1007/s10072-022-05893-4. PMID: 35149926
Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy.
Shi J, Zhao F, Pang X, Huang S, Wang J, Chang X, Zhang J, Liu Y, Guo J, Zhang W
Neuromuscul Disord 2021 Feb;31(2):149-157. Epub 2020 Nov 18 doi: 10.1016/j.nmd.2020.11.002. PMID: 33323309
Recessively transmitted predominantly motor neuropathies.
Parman Y, Battaloğlu E
Handb Clin Neurol 2013;115:847-61. doi: 10.1016/B978-0-444-52902-2.00048-5. PMID: 23931818
Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.
Ouvrier R, Geevasingha N, Ryan MM
Muscle Nerve 2007 Aug;36(2):131-43. doi: 10.1002/mus.20776. PMID: 17410579

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