U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal dominant hereditary demyelinating motor and sensory neuropathy

MedGen UID:
1842396
•Concept ID:
C5680673
•
Disease or Syndrome
Orphanet: ORPHA140453

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
Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy? Diagnostic value of morphological criteria.
Gabreëls-Festen AA, Gabreëls FJ, Hoogendijk JE, Bolhuis PA, Jongen PJ, Vingerhoets HM
Acta Neuropathol 1993;86(6):630-5. doi: 10.1007/BF00294303. PMID: 8310819

Recent clinical studies

Etiology

Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.
Cao W, Huang S, Zhao H, Li Z, Zhu X, Liu L, Zhang R
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2023 Oct 28;48(10):1572-1582. doi: 10.11817/j.issn.1672-7347.2023.230116. PMID: 38432886Free 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
Inherited peripheral neuropathy.
Keller MP, Chance PF
Semin Neurol 1999;19(4):353-62. doi: 10.1055/s-2008-1040850. PMID: 10716658

Diagnosis

Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.
Cao W, Huang S, Zhao H, Li Z, Zhu X, Liu L, Zhang R
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2023 Oct 28;48(10):1572-1582. doi: 10.11817/j.issn.1672-7347.2023.230116. PMID: 38432886Free PMC Article
Demyelination in hereditary sensory neuropathy type-1C.
Saba S, Chen Y, Maddipati KR, Hackett M, Hu B, Li J
Ann Clin Transl Neurol 2020 Sep;7(9):1502-1512. Epub 2020 Jul 30 doi: 10.1002/acn3.51110. PMID: 32730653Free PMC Article
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

The Antiepileptic Valproic Acid Ameliorates Charcot-Marie-Tooth 2W (CMT2W) Disease-Associated HARS1 Mutation-Induced Inhibition of Neuronal Cell Morphological Differentiation Through c-Jun N-terminal Kinase.
Memezawa S, Sato T, Ochiai A, Fukawa M, Sawaguchi S, Sango K, Miyamoto Y, Yamauchi J
Neurochem Res 2022 Sep;47(9):2684-2702. Epub 2022 Apr 5 doi: 10.1007/s11064-022-03587-z. PMID: 35380399
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations.
Gabreëls-Festen AA, Bolhuis PA, Hoogendijk JE, Valentijn LJ, Eshuis EJ, Gabreëls FJ
Acta Neuropathol 1995;90(6):645-9. doi: 10.1007/BF00318579. PMID: 8615087

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
Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom.
Karklinsky S, Kugler S, Bar-Yosef O, Nissenkorn A, Grossman-Jonish A, Tirosh I, Vivante A, Pode-Shakked B
Ital J Pediatr 2022 Jun 3;48(1):84. doi: 10.1186/s13052-022-01280-z. PMID: 35658923Free PMC Article
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
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M
Orphanet J Rare Dis 2014 Mar 19;9:38. doi: 10.1186/1750-1172-9-38. PMID: 24646194Free 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

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
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
Transthyretin familial amyloid polyneuropathy (TTR-FAP): Parameters for early diagnosis.
Escolano-Lozano F, Barreiros AP, Birklein F, Geber C
Brain Behav 2018 Jan;8(1):e00889. Epub 2017 Dec 19 doi: 10.1002/brb3.889. PMID: 29568686Free PMC Article
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.
Chance PF
Neuromolecular Med 2006;8(1-2):159-74. doi: 10.1385/NMM:8:1:159. PMID: 16775374
Overview of hereditary neuropathy with liability to pressure palsies.
Chance PF
Ann N Y Acad Sci 1999 Sep 14;883:14-21. PMID: 10586225

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...