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Giant axonal neuropathy

MedGen UID:
1684765
•Concept ID:
C5200933
•
Disease or Syndrome
Synonyms: Axonal Neuropathy, Giant; Axonal Neuropathy, Giant (GAN); Giant Axonal Neuropathy; Giant Axonal Neuropathy (GAN); Neuropathy, Giant Axonal; Neuropathy, Giant Axonal (GAN)
SNOMED CT: Giant axonal neuropathy (128207002)
 
Related genes: DCAF8, GAN
 
Monarch Initiative: MONDO:0000128
OMIM®: 256850
OMIM® Phenotypic series: PS256850

Authors:

Professional guidelines

PubMed

Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Chakravorty S, Logan R, Elson MJ, Luke RR, Verma S
Sci Rep 2020 Sep 30;10(1):16184. doi: 10.1038/s41598-020-73219-5. PMID: 32999401Free PMC Article
Genotype-phenotype analysis in patients with giant axonal neuropathy.
Kuhlenbäumer G
Neuromuscul Disord 2008 Mar;18(3):276. Epub 2008 Mar 14 doi: 10.1016/j.nmd.2007.12.004. PMID: 18343115
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G
Neuromuscul Disord 2007 Aug;17(8):624-30. Epub 2007 Jun 22 doi: 10.1016/j.nmd.2007.03.012. PMID: 17587580

Recent clinical studies

Etiology

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
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Echaniz-Laguna A, Cuisset JM, Guyant-Marechal L, Aubourg P, Kremer L, Baaloul N, Verloes A, Beladgham K, Perrot J, Francou B, Latour P
Neurogenetics 2020 Jan;21(1):29-37. Epub 2019 Oct 26 doi: 10.1007/s10048-019-00596-z. PMID: 31655922
Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.
Yiu EM, Ryan MM
J Peripher Nerv Syst 2012 Sep;17(3):285-300. doi: 10.1111/j.1529-8027.2012.00412.x. PMID: 22971091
Giant axonal neuropathy.
Yang Y, Allen E, Ding J, Wang W
Cell Mol Life Sci 2007 Mar;64(5):601-9. doi: 10.1007/s00018-007-6396-4. PMID: 17256086Free PMC Article

Diagnosis

Orphan Peripheral Neuropathies.
Finsterer J, Löscher WN, Wanschitz J, Iglseder S
J Neuromuscul Dis 2021;8(1):1-23. doi: 10.3233/JND-200518. PMID: 32986679Free PMC Article
Postnatal Woolly Hair: A Key to Diagnosis in Giant Axonal Neuropathy.
Allegue F, González-Vilas D, Zulaica A
Actas Dermosifiliogr (Engl Ed) 2020 Jul-Aug;111(6):524. Epub 2020 Jun 7 doi: 10.1016/j.ad.2018.08.018. PMID: 32522339
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Giant axonal neuropathy.
Hentati F, Hentati E, Amouri R
Handb Clin Neurol 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. PMID: 23931822
Giant axonal neuropathy.
Berg BO, Rosenberg SH, Asbury AK
Pediatrics 1972 Jun;49(6):894-9. PMID: 4339350

Therapy

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.
Metovic J, Li Y, Gong Y, Eichler F
Neurotherapeutics 2024 Jul;21(4):e00443. Epub 2024 Sep 13 doi: 10.1016/j.neurot.2024.e00443. PMID: 39276676Free PMC Article
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
Bharucha-Goebel DX, Todd JJ, Saade D, Norato G, Jain M, Lehky T, Bailey RM, Chichester JA, Calcedo R, Armao D, Foley AR, Mohassel P, Tesfaye E, Carlin BP, Seremula B, Waite M, Zein WM, Huryn LA, Crawford TO, Sumner CJ, Hoke A, Heiss JD, Charnas L, Hooper JE, Bouldin TW, Kang EM, Rybin D, Gray SJ, Bönnemann CG; GAN Trial Team
N Engl J Med 2024 Mar 21;390(12):1092-1104. doi: 10.1056/NEJMoa2307952. PMID: 38507752
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
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP
Mol Ther 2021 Feb 3;29(2):464-488. Epub 2020 Dec 10 doi: 10.1016/j.ymthe.2020.12.007. PMID: 33309881Free PMC Article
Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria.
Babar MU, Hakeem H, Khan S
BMJ Case Rep 2017 Mar 27;2017 doi: 10.1136/bcr-2016-219105. PMID: 28348263Free PMC Article

Prognosis

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Echaniz-Laguna A, Cuisset JM, Guyant-Marechal L, Aubourg P, Kremer L, Baaloul N, Verloes A, Beladgham K, Perrot J, Francou B, Latour P
Neurogenetics 2020 Jan;21(1):29-37. Epub 2019 Oct 26 doi: 10.1007/s10048-019-00596-z. PMID: 31655922
Two novel mutations in the GAN gene causing giant axonal neuropathy.
Normendez-Martínez MI, Monterde-Cruz L, Martínez R, Marquez-Harper M, Esquitin-Garduño N, Valdes-Flores M, Casas-Avila L, de Leon-Suarez VP, Romero-Díaz VJ, Hidalgo-Bravo A
World J Pediatr 2018 Jun;14(3):298-304. Epub 2018 Jun 6 doi: 10.1007/s12519-018-0140-z. PMID: 29876741
Pili canaliculi as manifestation of giant axonal neuropathy.
Almeida HL Jr, Garcias G, Silva RM, Batista SL, Pasetto F
An Bras Dermatol 2016 Sep-Oct;91(5 suppl 1):125-127. doi: 10.1590/abd1806-4841.20164677. PMID: 28300918Free PMC Article
Measuring disease progression in giant axonal neuropathy: implications for clinical trial design.
Roth LA, Marra JD, LaMarca NH, Sproule DM
J Child Neurol 2015 May;30(6):741-8. Epub 2014 Sep 3 doi: 10.1177/0883073814542946. PMID: 25186661
Giant axonal neuropathy.
Hentati F, Hentati E, Amouri R
Handb Clin Neurol 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. PMID: 23931822

Clinical prediction guides

Intrathecal Gene Therapy for Giant Axonal Neuropathy.
Bharucha-Goebel DX, Todd JJ, Saade D, Norato G, Jain M, Lehky T, Bailey RM, Chichester JA, Calcedo R, Armao D, Foley AR, Mohassel P, Tesfaye E, Carlin BP, Seremula B, Waite M, Zein WM, Huryn LA, Crawford TO, Sumner CJ, Hoke A, Heiss JD, Charnas L, Hooper JE, Bouldin TW, Kang EM, Rybin D, Gray SJ, Bönnemann CG; GAN Trial Team
N Engl J Med 2024 Mar 21;390(12):1092-1104. doi: 10.1056/NEJMoa2307952. PMID: 38507752
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
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Echaniz-Laguna A, Cuisset JM, Guyant-Marechal L, Aubourg P, Kremer L, Baaloul N, Verloes A, Beladgham K, Perrot J, Francou B, Latour P
Neurogenetics 2020 Jan;21(1):29-37. Epub 2019 Oct 26 doi: 10.1007/s10048-019-00596-z. PMID: 31655922
The role of neurofilament aggregation in neurodegeneration: lessons from rare inherited neurological disorders.
Didonna A, Opal P
Mol Neurodegener 2019 May 16;14(1):19. doi: 10.1186/s13024-019-0318-4. PMID: 31097008Free PMC Article
Measuring disease progression in giant axonal neuropathy: implications for clinical trial design.
Roth LA, Marra JD, LaMarca NH, Sproule DM
J Child Neurol 2015 May;30(6):741-8. Epub 2014 Sep 3 doi: 10.1177/0883073814542946. PMID: 25186661

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