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Autosomal dominant hereditary axonal motor and sensory neuropathy

MedGen UID:
1842937
•Concept ID:
C5680676
•
Disease or Syndrome
Orphanet: ORPHA140456

Professional guidelines

PubMed

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V
Brain 2009 Oct;132(Pt 10):2699-711. Epub 2009 Aug 3 doi: 10.1093/brain/awp198. PMID: 19651702Free PMC Article
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E
Brain 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8 doi: 10.1093/brain/awm014. PMID: 17347251
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

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC
Brain 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452. PMID: 36445400Free 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

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC
Brain 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452. PMID: 36445400Free PMC Article
Hereditary transthyretin-related amyloidosis.
Finsterer J, Iglseder S, Wanschitz J, Topakian R, Löscher WN, Grisold W
Acta Neurol Scand 2019 Feb;139(2):92-105. Epub 2018 Oct 23 doi: 10.1111/ane.13035. PMID: 30295933
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
Three Turkish families with different transthyretin mutations.
Bekircan-Kurt CE, Güneş N, Yılmaz A, Erdem-Özdamar S, Tan E
Neuromuscul Disord 2015 Sep;25(9):686-92. Epub 2015 May 27 doi: 10.1016/j.nmd.2015.05.010. PMID: 26115788
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
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
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

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
Autosomal dominant hereditary spastic paraplegia with axonal sensory motor polyneuropathy maps to chromosome 21q 22.3.
Peddareddygari LR, Hanna PA, Igo RP Jr, Luo YA, Won S, Hirano M, Grewal RP
Int J Neurosci 2016;126(7):600-6. Epub 2015 Aug 17 doi: 10.3109/00207454.2015.1048805. PMID: 26000935
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
Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN.
Hahn AF
Brain Pathol 1993 Apr;3(2):147-55. doi: 10.1111/j.1750-3639.1993.tb00739.x. PMID: 8293176

Recent systematic reviews

Hereditary transthyretin-related amyloidosis.
Finsterer J, Iglseder S, Wanschitz J, Topakian R, Löscher WN, Grisold W
Acta Neurol Scand 2019 Feb;139(2):92-105. Epub 2018 Oct 23 doi: 10.1111/ane.13035. PMID: 30295933

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