유전운동신경병증의 임상적 및 유전학적 진단의 최신지견
Recent Advances in Clinical and Genetic Diagnosis of Hereditary Motor Neuropathy
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Distal hereditary motor neuropathy (dHMN) is one of the most common hereditary neuropathies characterized by genetic and clinical heterogeneity. Various genetic causes have been identified and are classified into several subtypes. The dHMN types 1, 2, 5, 7, 8 and 9 are generally autosomal dominant, while dHMN types 3, 4 and 6 have recessive inheritance. Most chromosomal loci of the dHMN subtype are known, and several causative genes including HSPB8, HSPB1, HSPB3, GARS, IGHMBP2, SCL5A7 and DCTN1 have been identified. They may also show different phenotypes depending on each subtype. Therefore, it is important to have a clear understanding of the genetic cause and the characteristics of each patient for diagnosis and tailored treatment. In this review, we introduce the latest classification of dHMN and describe its characteristics to help understand diseases, and establish new therapeutic strategies in the future.
Abstract
Distal hereditary motor neuropathy (dHMN) is one of the most common hereditary neuropathies characterized by genetic and clinical heterogeneity. Various genetic causes have been identified and are classified into several subtypes. The dHMN types 1, 2, 5, 7, 8 and 9 are generally autosomal dominant, while dHMN types 3, 4 and 6 have recessive inheritance. Most chromosomal loci of the dHMN subtype are known, and several causative genes including HSPB8, HSPB1, HSPB3, GARS, IGHMBP2, SCL5A7 and DCTN1 have been identified. They may also show different phenotypes depending on each subtype. Therefore, it is important to have a clear understanding of the genetic cause and the characteristics of each patient for diagnosis and tailored treatment. In this review, we introduce the latest classification of dHMN and describe its characteristics to help understand diseases, and establish new therapeutic strategies in the future.
참고문헌 (59)
- Dyck PJ, "Lower motor and primary sensory neuron diseases with peroneal muscular atrophy I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies", Arch Neurol, 18, pp.603~618 (1968)
- Reilly MM, "Charcot-Marie-Tooth disease", J Peripher Nerv Syst, 16, pp.1~14 (2011)
- Kuhlenbäumer G, "Clinical features and molecular genetics of hereditary peripheral neuropathies", J Neurol, 249, pp.1629~1650 (2002)
- Rossor AM, "The distal hereditary motor neuropathies", J Neurol Neurosurg Psychiatry, 83, pp.6~14 (2011)
- Irobi J, "Molecular genetics of distal hereditary motor neuropathies", Hum Mol Genet, 2, pp.R195~R202 (2004)
- Irobi J, "Unraveling the genetics of distal hereditary motor neuropathies", Neuromolecular Med, 8, pp.131~146 (2006)
- Harding AE, "Peripheral Neuropathy", pp.1051~1064 (1993), W. B. Saunders
- Fridman V, "Inherited Neuropathies", Semin Neurol, 35, pp.407~423 (2015)
- Houlden H, "Mutations in the HSP27 (HSPB1)gene cause dominant, recessive, and sporadic distal HMN", CMT type 2, 2008, pp.71, 1660~1668
- Tsai PC, "A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropath", Brain, 140, pp.1252~1266 (2017)
- Gopinath S, "A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36", Hum Genet, 121, pp.559~564 (2007)
- Davis CJF, "The peroneal muscular atrophy syndrome: clinical, genetic and electrophysiologic findings and classification", J Genet Hum, 26, pp.311~349 (1978)
- Harding AE, "Hereditary distal spinal muscular atrophy: a report on 34 cases and a review of the literature", J Neurol Sci, 45, pp.337~348 (1980)
- Timmerman V, "Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree", J Neurol Sci, 109, pp.41~48 (1992)
- Irobi J, "Hot-spot residue in small heatshock protein 22 causes distal motor neuropathy", Nat Genet, 36, pp.597~601 (2004)
- Carra S, "HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells", Hum Mol Genet, 14, pp.1659~1669 (2005)
- Nelson JW, "Heredofamilial progressive spinal muscular atrophy: a clinical and electromyographic study of a kinship", Neurology, 16, pp.306~ (1966)
- D'Alessandro R, "Benign familial spinal muscular atrophy with hypertrophy of the calves", Arch Neurol, 39, pp.657~660 (1982)
- Evgrafov OV, "Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Mutant small heatshock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy", Nat Genet, 36, pp.602~606 (2004)
- Wyttenbach A, "Heat shock protein 27prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin", Hum Mol Genet, 11, pp.1137~1151 (2002)
- Houlden H, "Mutations in the HSP27 (HSPB1)gene cause dominant, recessive, and sporadic distal HMN", CMT type 2, 2008, pp.71, 1660~1668
- Kolb SJ, "Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Mutant small heat shock protein B3 causes motor neuropathy:utility of a candidate gene approach", Neurology, 74, pp.502~506 (2010)
- Lam WY, "Isolation and characterization of a human heart cDNA encoding a new member of the small heat shock protein family--HSPL27", Biochim Biophys Acta, 1314, pp.120~124 (1996)
- Sumner CJ, "A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance", Am J Hum Genet, 93, pp.976~983 (2013)
- Boylan KB, "Autosomal dominant distal spinal muscular atrophy in four generations", Neurology, 45, pp.699~704 (1995)
- Pearn J, "Distal spinal muscular atrophy: a clinical and genetic study of 8 kindreds", J Neurol Sci, 43, pp.183~191 (1979)
- Viollet L, "Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13", Ann Neurol, 51, pp.585~592 (2002)
- Viollet L, "Mayer, M., Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families", Eur J Hum Genet, 12, pp.483~488 (2004)
- Antonellis A, "Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V", Am J Hum Genet, 72, pp.1293~1299 (2003)
- Dubourg O, "The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V", Neurology, 66, pp.1721~1726 (2006)
- Auer-Grumbach M, "Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study", Brain, 123, pp.1612~1623 (2000)
- Windpassinger C, "Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome", Nat Genet, 36, pp.271~276 (2004)
- Griffin LB, "Impaired function is a common feature of neuronopathy-associated glycyltRNA synthetase mutations", Hum Mutat, 35, pp.1363~1371 (2014)
- Cui X, "Seipin ablation in mice results in severe generalized lipodystrophy", Hum Mol Genet, 20, pp.3022~3030 (2011)
- Christodoulou K, "Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p", Hum Molec Genet, 4, pp.1629~1632 (1995)
- Sambuughin N, "Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15", J Neurol Sci, 161, pp.23~28 (1998)
- Beetz C, "Exome sequencing identifies a REEP1mutation involved in distal hereditary motor neuropathy type V. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V", Am J Hum Genet, 91, pp.139~145 (2012)
- Saito H, "RTP family members induce functional expression of mammalian odorant receptors", Cell, 119, pp.679~691 (2004)
- Grohmann K, "Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Mutations in the gene encoding immunoglobulin mu-binding protein 2cause spinal muscular atrophy with respiratory distress type 1", Nat Genet, 29, pp.75~77 (2001)
- Guenther U-P, "IGHMBP2 is a ribosomeassociated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)", Hum Mol Genet, 18, pp.1288~1300 (2009)
- Pitt M, "Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1", Brain, 126, pp.2682~2692 (2003)
- Joseph S, "Interfamilial phenotypic heterogeneity in SMARD1", Neuromusc Disord, 19, pp.193~195 (2009)
- McEntagart M, "Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14", Am J Hum Genet, 68, pp.1270~1276 (2001)
- Barwick KE, "Defective presynaptic choline transport underlies hereditary motor neuropathy", Am J Hum Genet, 91, pp.1103~1107 (2012)
- Apparsundaram S, "Molecular cloning of a human, hemicholinium-3-sensitive choline transporter", Biochem Biophys Res Commun, 276, pp.862~867 (2000)
- Young ID, "Hereditary distal spinal muscular atrophy with vocal cord paralysis", J Neurol Neurosurg Psychiat, 43, pp.413~418 (1980)
- Puls I, "Mutant dynactin in motor neuron disease. Mutant dynactin in motor neuron disease", Nat Genet, 33, pp.455~456 (2003)
- Munch C, "Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS", Neurology, 63, pp.724~726 (2004)
- Holzbaur ELF, "Localization of the DCTN1gene encoding p150(Glued) to human chromosome 2p13by fluorescence in situ hybridization", Genomics, 31, pp.398~399 (1996)
- Fleury P, "A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis. A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis", J Neurol Neurosurg Psychiatry, 48, pp.1037~1048 (1985)
- van der Vleuten AJ, "Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24", Eur J Hum Genet, 6, pp.376~382 (1998)
- Auer-Grumbach M, "Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C", Nat Genet, 42, pp.160~164 (2010)
- Lorenzo IM, "TRPV4 channel participates in receptor-operated calcium entry and ciliary beat frequency regulation in mouse airway epithelial cells", Proc Natl Acad Sci, 105, pp.12611~12616 (2008)
- Astrea G, "Muscle MRI in TRPV4-related congenital distal SMA", Neurology, 78, pp.364~365 (2012)
- Wakasugi K, "A human aminoacyl-tRNA synthetase as a regulator of angiogenesis", Proc Natl Acad Sci, 99, pp.173~177 (2002)
- Li X, "A SIGMAR1splice-site mutation causes distal hereditary motor neuropathy. A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy", Neurology, 84, pp.2430~2437 (2015)
- Al-Saif A, "A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis", Ann Neurol, 70, pp.913~919 (2011)
- Mavlyutov TA, "The sigma-1 receptor is enriched in postsynaptic sites of C-terminals in mouse motoneurons:an anatomical and behavioral study", Neuroscience, 167, pp.247~255 (2010)
- Christodoulou K, "A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12", Ann Neurol, 48, pp.877~884 (2000)
