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Autosomal recessive intermediate Charcot-Marie-Tooth disease

MedGen UID:
1843095
•Concept ID:
C5679732
•
Disease or Syndrome
Synonyms: autosomal recessive intermediate Charcot-Marie-Tooth disease; intermediate Charcot-Marie-Tooth disease, autosomal recessive; RI-CMT
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017058
Orphanet: ORPHA268337

Definition

Autosomal recessive form of intermediate Charcot-Marie-Tooth disease. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive intermediate Charcot-Marie-Tooth disease

Recent clinical studies

Etiology

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.
Arlt A, Akova-Öztürk E, Schirmacher A, Schlüter B, Rust S, Meyer Zu Hörste G, Wiendl H, Wiethoff S
J Neurogenet 2024 Jun;38(2):35-40. Epub 2024 Jul 8 doi: 10.1080/01677063.2024.2374898. PMID: 38975976
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG
Brain 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179. PMID: 34114613Free PMC Article
GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.
Figueiredo FB, Silva WA Jr, Giuliatti S, Tomaselli PJ, Lourenço CM, Gouvêa SP, Covaleski APPM, Hallak JE, Marques W Jr
Neuromuscul Disord 2021 Jun;31(6):505-511. Epub 2021 Mar 20 doi: 10.1016/j.nmd.2021.03.005. PMID: 33903021
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R
Hum Mol Genet 2013 Oct 15;22(20):4224-32. Epub 2013 Jun 17 doi: 10.1093/hmg/ddt274. PMID: 23777631Free 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

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Chen Z, Maroofian R, Başak AN, Shingavi L, Karakaya M, Efthymiou S, Gustavsson EK, Meier L, Polavarapu K, Vengalil S, Preethish-Kumar V, Nandeesh BN, Gökçe Güneş N, Akan O, Candan F, Schrank B, Zuchner S, Murphy D, Kapoor M, Ryten M, Wirth B, Reilly MM, Nalini A, Houlden H, Sarraf P
Eur J Neurol 2021 Apr;28(4):1344-1355. Epub 2020 Dec 17 doi: 10.1111/ene.14649. PMID: 33220101
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.
Park J, Flores BR, Scherer K, Kuepper H, Rossi M, Rupprich K, Rautenberg M, Deininger N, Weichselbaum A, Grimm A, Sturm M, Grasshoff U, Delpire E, Haack TB
J Med Genet 2020 Apr;57(4):283-288. Epub 2019 Aug 22 doi: 10.1136/jmedgenet-2019-106273. PMID: 31439721Free PMC Article
Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients.
Lee AJ, Nam SH, Park JM, Kanwal S, Choi YJ, Lee HJ, Lee KS, Lee JE, Park JS, Choi BO, Chung KW
J Hum Genet 2019 Sep;64(9):961-965. Epub 2019 Jun 21 doi: 10.1038/s10038-019-0636-y. PMID: 31227790
Intermediate Charcot-Marie-Tooth disease.
Liu L, Zhang R
Neurosci Bull 2014 Dec;30(6):999-1009. Epub 2014 Oct 17 doi: 10.1007/s12264-014-1475-7. PMID: 25326399Free PMC Article
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

Therapy

Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG
Brain 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179. PMID: 34114613Free PMC Article
Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients.
Lee AJ, Nam SH, Park JM, Kanwal S, Choi YJ, Lee HJ, Lee KS, Lee JE, Park JS, Choi BO, Chung KW
J Hum Genet 2019 Sep;64(9):961-965. Epub 2019 Jun 21 doi: 10.1038/s10038-019-0636-y. PMID: 31227790

Prognosis

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
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
Aharoni S, Barwick KE, Straussberg R, Harlalka GV, Nevo Y, Chioza BA, McEntagart MM, Mimouni-Bloch A, Weedon M, Crosby AH
BMC Med Genet 2016 Nov 16;17(1):82. doi: 10.1186/s12881-016-0343-x. PMID: 27852232Free PMC Article
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R
Hum Mol Genet 2013 Oct 15;22(20):4224-32. Epub 2013 Jun 17 doi: 10.1093/hmg/ddt274. PMID: 23777631Free PMC Article
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
Nicolaou P, Cianchetti C, Minaidou A, Marrosu G, Zamba-Papanicolaou E, Middleton L, Christodoulou K
Eur J Hum Genet 2013 Feb;21(2):190-4. Epub 2012 Jul 11 doi: 10.1038/ejhg.2012.146. PMID: 22781092Free PMC Article
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M
Nat Genet 2000 Nov;26(3):370-4. doi: 10.1038/81701. PMID: 11062483

Clinical prediction guides

Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG
Brain 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179. PMID: 34114613Free PMC Article
GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.
Figueiredo FB, Silva WA Jr, Giuliatti S, Tomaselli PJ, Lourenço CM, Gouvêa SP, Covaleski APPM, Hallak JE, Marques W Jr
Neuromuscul Disord 2021 Jun;31(6):505-511. Epub 2021 Mar 20 doi: 10.1016/j.nmd.2021.03.005. PMID: 33903021
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R
Hum Mol Genet 2013 Oct 15;22(20):4224-32. Epub 2013 Jun 17 doi: 10.1093/hmg/ddt274. PMID: 23777631Free PMC Article
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
Nicolaou P, Cianchetti C, Minaidou A, Marrosu G, Zamba-Papanicolaou E, Middleton L, Christodoulou K
Eur J Hum Genet 2013 Feb;21(2):190-4. Epub 2012 Jul 11 doi: 10.1038/ejhg.2012.146. PMID: 22781092Free PMC Article
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

Recent systematic reviews

Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A
J Neurol 2017 Aug;264(8):1655-1677. Epub 2017 Mar 31 doi: 10.1007/s00415-017-8474-3. PMID: 28364294

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