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Neuronopathy, distal hereditary motor, autosomal dominant

MedGen UID:
1787720
•Concept ID:
C5548212
•
Disease or Syndrome
Synonym: Autosomal dominant distal hereditary motor neuropathy
SNOMED CT: Autosomal dominant distal hereditary motor neuropathy (1156837002)
 
Monarch Initiative: MONDO:0015362
OMIM® Phenotypic series: PS182960
Orphanet: ORPHA140465

Definition

Autosomal dominant form of distal hereditary motor neuropathy. [from MONDO]

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
Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
Cutrupi AN, Narayanan RK, Perez-Siles G, Grosz BR, Lai K, Boyling A, Ellis M, Lin RCY, Neumann B, Mao D, Uesugi M, Nicholson GA, Vucic S, Saporta MA, Kennerson ML
Brain 2023 Mar 1;146(3):880-897. doi: 10.1093/brain/awac424. PMID: 36380488Free PMC Article
Late-onset lower motor neuronopathy: a new autosomal dominant disorder.
Jokela M, Penttilä S, Huovinen S, Hackman P, Saukkonen AM, Toivanen J, Udd B
Neurology 2011 Jul 26;77(4):334-40. Epub 2011 Jun 29 doi: 10.1212/WNL.0b013e3182267b71. PMID: 21715705
Unraveling the genetics of distal hereditary motor neuronopathies.
Irobi J, Dierick I, Jordanova A, Claeys KG, De Jonghe P, Timmerman V
Neuromolecular Med 2006;8(1-2):131-46. doi: 10.1385/nmm:8:1-2:131. PMID: 16775372
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.
Auer-Grumbach M, Löscher WN, Wagner K, Petek E, Körner E, Offenbacher H, Hartung HP
Brain 2000 Aug;123 ( Pt 8):1612-23. doi: 10.1093/brain/123.8.1612. PMID: 10908191

Diagnosis

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
de Fuenmayor-Fernández de la Hoz CP, Lupo V, Bermejo-Guerrero L, Martín-Jiménez P, Hernández-Laín A, Olivé M, Gallardo E, Esteban-Pérez J, Espinós C, Domínguez-González C
J Neurol 2024 Feb;271(2):986-994. Epub 2023 Oct 31 doi: 10.1007/s00415-023-12039-9. PMID: 37907725
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
Late-onset lower motor neuronopathy: a new autosomal dominant disorder.
Jokela M, Penttilä S, Huovinen S, Hackman P, Saukkonen AM, Toivanen J, Udd B
Neurology 2011 Jul 26;77(4):334-40. Epub 2011 Jun 29 doi: 10.1212/WNL.0b013e3182267b71. PMID: 21715705
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
De Jonghe P, Auer-Grumbach M, Irobi J, Wagner K, Plecko B, Kennerson M, Zhu D, De Vriendt E, Van Gerwen V, Nicholson G, Hartung HP, Timmerman V
Brain 2002 Jun;125(Pt 6):1320-5. doi: 10.1093/brain/awf127. PMID: 12023320
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.
Auer-Grumbach M, Löscher WN, Wagner K, Petek E, Körner E, Offenbacher H, Hartung HP
Brain 2000 Aug;123 ( Pt 8):1612-23. doi: 10.1093/brain/123.8.1612. PMID: 10908191

Prognosis

Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.
Lee AJ, Nam DE, Choi YJ, Nam SH, Choi BO, Chung KW
Genes Genomics 2020 Jun;42(6):663-672. Epub 2020 Apr 20 doi: 10.1007/s13258-020-00933-9. PMID: 32314272

Clinical prediction guides

Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.
Kamada M, Kawarai T, Miyamoto R, Kawakita R, Tojima Y, Montecchiani C, D'Onofrio L, Caltagirone C, Orlacchio A, Kaji R
Parkinsonism Relat Disord 2018 Jan;46:79-83. Epub 2017 Oct 21 doi: 10.1016/j.parkreldis.2017.10.012. PMID: 29107646
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
Brusse E, Majoor-Krakauer D, de Graaf BM, Visser GH, Swagemakers S, Boon AJ, Oostra BA, Bertoli-Avella AM
Neurogenetics 2009 Oct;10(4):289-97. Epub 2009 Apr 24 doi: 10.1007/s10048-009-0193-1. PMID: 19396477Free PMC Article
Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy.
Passamonti L, Muglia M, Magariello A, Bellesi M, Conforti FL, Mazzei R, Patitucci A, Gabriele AL, Sprovieri T, Peluso G, Caracciolo M, Medici E, Logullo F, Provinciali L, Quattrone A
Neuromuscul Disord 2004 Nov;14(11):705-10. doi: 10.1016/j.nmd.2004.07.004. PMID: 15482954
Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.
McEntagart M, Norton N, Williams H, Teare MD, Dunstan M, Baker P, Houlden H, Reilly M, Wood N, Harper PS, Futreal PA, Williams N, Rahman N
Am J Hum Genet 2001 May;68(5):1270-6. Epub 2001 Apr 4 doi: 10.1086/320122. PMID: 11294660Free PMC Article
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.
Auer-Grumbach M, Löscher WN, Wagner K, Petek E, Körner E, Offenbacher H, Hartung HP
Brain 2000 Aug;123 ( Pt 8):1612-23. doi: 10.1093/brain/123.8.1612. PMID: 10908191

Supplemental Content

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