Perspectives on the Genomics of HSP Beyond Mendelian Inheritance
Open accessAbstract
Hereditary Spastic Paraplegia is an extraordinarily heterogeneous disease caused by over 50 Mendelian genes. Recent applications of next-generation sequencing, large scale data analysis, and data sharing/matchmaking, have discovered a quickly expanding set of additional HSP genes. Since most recently discovered HSP genes are rare causes of the disease, there is a growing concern of a persisting diagnostic gap, estimated at 30-40%, and even higher for sporadic cases. This missing heritability may not be fully closed by classic Mendelian mutations in protein coding genes. Here we show strategies and published examples of broadening areas of attention for Mendelian and non-Mendelian causes of HSP. We suggest a more inclusive perspective on the potential final architecture of HSP genomics. Efforts to narrow the heritability gap will ultimately lead to more precise and comprehensive genetic diagnoses, which is the starting point for emerging, highly specific gene therapies.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Hereditary spastic paraplegias are clinically and genetically very heterogeneous, with more than 80 genes described.
“The AMN phenotype is an important differential diagnosis to hereditary spastic paraplegias (HSP)6,7, which are clinically and genetically very heterogeneous (80+ genes are described—see8).”
From Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy (2020) · cites this paper as [8]
The Introduction describes HSPs as genetically heterogeneous and distinguishes pure and complicated forms with different clinical features. It reports over 76 genomic loci but 58 corresponding genes, so it does not support the claim that more than 80 genes had been described. (LLM, conf=0.88)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works
Network medicine: a network-based approach to human disease
Barabási, A.-L., Gulbahce, N., & Loscalzo, J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2918 · Cited by 5,034 · see citing works
Interactome Networks and Human Disease
Vidal, M., Cusick, M. E., & Barabási, A.-L. (2011) · Cell · doi:10.1016/j.cell.2011.02.016 · Cited by 1,771 · see citing works
Uncovering disease-disease relationships through the incomplete interactome
Menche, J., Sharma, A., Kitsak, M., Ghiassian, S. D., Vidal, M., Loscalzo, J., & Barabási, A.-L. (2015) · Science · doi:10.1126/science.1257601 · Cited by 1,546 · see citing works
Genetic Control of Biochemical Reactions in Neurospora
Beadle, G. W., & Tatum, E. L. (1941) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.27.11.499 · Cited by 1,368 · see citing works
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., et al. (2015) · Science · doi:10.1126/science.aaa3650 · Cited by 966 · see citing works
A copy number variation map of the human genome
Zarrei, M., MacDonald, J. R., Merico, D., & Scherer, S. W. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3871 · Cited by 921 · see citing works
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Cummings, B. B., Marshall, J. L., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A. R., Bolduc, V., Waddell, L. B., Sandaradura, S. A., O’Grady, G. L., et al. (2017) · Science Translational Medicine · doi:10.1126/scitranslmed.aal5209 · Cited by 831 · see citing works
Cooper, D. N., Krawczak, M., Polychronakos, C., Tyler‐Smith, C., & Kehrer‐Sawatzki, H. (2013) · Human Genetics · doi:10.1007/s00439-013-1331-2 · Cited by 650 · see citing works
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.009 · Cited by 643 · see citing works
Genetic diagnosis of Mendelian disorders via RNA sequencing
Kremer, L. S., Bader, D. M., Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., et al. (2017) · Nature Communications · doi:10.1038/ncomms15824 · Cited by 590 · see citing works
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Novarino, G., Fenstermaker, A. G., Zaki, M. S., Hofree, M., Silhavy, J. L., Heiberg, A., Abdellateef, M., Rosti, B., Scott, E., Mansour, L., et al. (2014) · Science · doi:10.1126/science.1247363 · Cited by 538 · see citing works
Ghiassian, S. D., Menche, J., & Barabási, A.-Ĺ. (2015) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1004120 · Cited by 388 · see citing works
Clan Genomics and the Complex Architecture of Human Disease
Lupski, J. R., Belmont, J. W., Boerwinkle, E., & Gibbs, R. A. (2011) · Cell · doi:10.1016/j.cell.2011.09.008 · Cited by 366 · see citing works
Edgetic perturbation models of human inherited disorders
Zhong, Q., Simonis, N., Li, Q., Charloteaux, B., Heuze, F., Klitgord, N., Tam, S., Yu, H., Venkatesan, K., Mou, D., et al. (2009) · Molecular Systems Biology · doi:10.1038/msb.2009.80 · Cited by 359 · see citing works
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers
Wenger, A. M., Guturu, H., Bernstein, J. A., & Bejerano, G. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.88 · Cited by 326 · see citing works
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
Schüle, R., Wiethoff, S., Martus, P., Karle, K. N., Otto, S., Klebe, S., Klimpe, S., Gallenmüller, C., Kurzwelly, D., Henkel, D., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24611 · Cited by 315 · see citing works
Self-citationCellular Pathways of Hereditary Spastic Paraplegia
Blackstone, C. D. (2012) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-062111-150400 · Cited by 282 · see citing works
Clinical whole exome sequencing in child neurology practice
Srivastava, S., Cohen, J. S., Vernon, H. J., Baranano, K. W., McClellan, R., Jamal, L., Naidu, S., & Fatemi, A. S. (2014) · Annals of Neurology · doi:10.1002/ana.24251 · Cited by 276 · see citing works
Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S., Bainbridge, M., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.07.023 · Cited by 249 · see citing works
Rare variant association studies: considerations, challenges and opportunities
Auer, P. L., & Lettre, G. (2015) · Genome Medicine · doi:10.1186/s13073-015-0138-2 · Cited by 246 · see citing works
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
Kara, E., Tucci, A., Manzoni, C., Lynch, D. S., Elpidorou, M., Bettencourt, C., Chelban, V., Manole, A., Hamed, S. A., Haridy, N. A., et al. (2016) · Brain · doi:10.1093/brain/aww111 · Cited by 231 · see citing works
Lessons learned from additional research analyses of unsolved clinical exome cases
Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., et al. (2017) · Genome Medicine · doi:10.1186/s13073-017-0412-6 · Cited by 230 · see citing works
Hot-spot KIF5A mutations cause familial ALS
Brenner, D., Yilmaz, R., Müller, K., Grehl, T., Petri, S., Meyer, T., Großkreutz, J., Weydt, P., Ruf, W. P., Neuwirth, C., et al. (2017) · Brain · doi:10.1093/brain/awx370 · Cited by 228 · see citing works
Emond, M. J., Go, L., Louie, T., Emerson, J., Zhao, W. D., Mathias, R. A., Knowles, M. R., Wright, F. A., Rieder, M. J., Tabor, H. K., et al. (2012) · Nature Genetics · doi:10.1038/ng.2344 · Cited by 222 · see citing works
Cady, J., Allred, P., Bali, T., Pestronk, A., Goate, A., Miller, T. M., Mitra, R. D., Ravits, J., Harms, M. B., & Baloh, R. H. (2014) · Annals of Neurology · doi:10.1002/ana.24306 · Cited by 220 · see citing works
UPD detection using homozygosity profiling with a SNP genotyping microarray
Papenhausen, P. R., Schwartz, S., Risheg, H., Keitges, E. A., Gadi, I. K., Burnside, R. D., Jaswaney, V. L., Pappas, J., Pasion, R. M., Friedman, K. J., et al. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33939 · Cited by 201 · see citing works
Synofzik, M., & Schüle, R. (2017) · Movement Disorders · doi:10.1002/mds.26944 · Cited by 193 · see citing works
Sharma, A., Menche, J., Huang, C., Ort, T., Zhou, X., Kitsak, M., Sahni, N., Thibault, D. M., Voung, L., Guo, F., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv001 · Cited by 193 · see citing works
The extent of axonal loss in the long tracts in hereditary spastic paraplegia
DeLuca, G. C., Ebers, G. C., & Esiri, M. M. (2004) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2004.00587.x · Cited by 193 · see citing works
Klebe, S., Stévanin, G., & Depienne, C. (2015) · Revue Neurologique · doi:10.1016/j.neurol.2015.02.017 · Cited by 179 · see citing works
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
Klebe, S., Depienne, C., Gerber, S., Challe, G., Anheim, M., Charles, P., Fédirko, E., Lejeune, É., Cottineau, J., Brusco, A., et al. (2012) · Brain · doi:10.1093/brain/aws240 · Cited by 172 · see citing works
Estrada‐Cuzcano, A., Martin, S., Chamova, T., Synofzik, M., Timmann, D., Holemans, T., Andreeva, A., Reichbauer, J., Rycke, R. M. D., Chang, D.-I., et al. (2016) · Brain · doi:10.1093/brain/aww307 · Cited by 165 · see citing works
A frequent oligogenic involvement in congenital hypothyroidism
de Filippis, T., Gelmini, G., Paraboschi, E., Vigone, M. C., Di Frenna, M., Marelli, F., Bonomi, M., Cassio, A., Larizza, D., Moro, M., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx145 · Cited by 145 · see citing works
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
Beetz, C., Nygren, A. O. H., Schickel, J., Auer‐Grumbach, M., Bürk, K., Heide, G., Kassubek, J., Klimpe, S., Klopstock, T., Kreuz, F. R., et al. (2006) · Neurology · doi:10.1212/01.wnl.0000244413.49258.f5 · Cited by 141 · see citing works
Tesson, C., Koht, J. A., & Stévanin, G. (2015) · Human Genetics · doi:10.1007/s00439-015-1536-7 · Cited by 141 · see citing works
Detecting Rare Variant Effects Using Extreme Phenotype Sampling in Sequencing Association Studies
Barnett, I., Lee, S., & Lin, X. (2012) · Genetic Epidemiology · doi:10.1002/gepi.21699 · Cited by 136 · see citing works
Clinical interpretation of copy number variants in the human genome
Nowakowska, B. (2017) · Journal of Applied Genetics · doi:10.1007/s13353-017-0407-4 · Cited by 130 · see citing works
Genetic Modifiers and Oligogenic InheritancePreprint
Kousi, M., & Katsanis, N. (2015) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a017145 · Cited by 130 · see citing works
Converging cellular themes for the hereditary spastic paraplegias
Blackstone, C. D. (2018) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2018.04.025 · Cited by 130 · see citing works
The continuum of causality in human genetic disorders
Katsanis, N. (2016) · Genome biology · doi:10.1186/s13059-016-1107-9 · Cited by 128 · see citing works
Mosaicism and uniparental disomy in prenatal diagnosis
Eggermann, T., Soellner, L., Buiting, K., & Kotzot, D. (2014) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2014.11.010 · Cited by 125 · see citing works
Ferrari, R., Wang, Y., Vandrovcová, J., Guelfi, S., Witeolar, A., Karch, C. M. M., Schork, A. J., Fan, C. C., Brewer, J. B., International Genomics of Alzheimer's Project (IGAP), et al. (2016) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2016-314411 · Cited by 122 · see citing works
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
Depienne, C., Fédirko, E., Forlani, S., Cazeneuve, C., Ribaı̈, P., Feki, I., Tallaksen, C. M. E., Nguyen, K., Stankoff, B., Ruberg, M., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.046425 · Cited by 118 · see citing works
van de Warrenburg, B. P. C., Schouten, M. I., de Bot, S. T., Vermeer, S., Meijer, R. P. P., Pennings, M., Gilissen, C., Willemsen, M. A., Scheffer, H., & Kamsteeg, E. (2016) · European Journal of Human Genetics · doi:10.1038/ejhg.2016.42 · Cited by 115 · see citing works
Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform
Gonzalez, M., Falk, M. J., Gai, X., Postrel, R., Schüle, R., & Zuchner, S. L. (2015) · Human Mutation · doi:10.1002/humu.22836 · Cited by 111 · see citing works
Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data
Yao, R., Zhang, C., Yu, T., Li, N., Hu, X., Wang, X., Wang, J., & Shen, Y. (2017) · Molecular Cytogenetics · doi:10.1186/s13039-017-0333-5 · Cited by 108 · see citing works
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
Sanna‐Cherchi, S., Khan, K., Westland, R., Krithivasan, P., Fievet, L., Rasouly, H. M., Ionita‐Laza, I., Capone, V. P., Fasel, D. A., Kiryluk, K., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.09.018 · Cited by 106 · see citing works
Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia
Esteves, T., Dürr, A., Mundwiller, E., Loureiro, J. L., Boutry, M., Gonzalez, M., Gauthier, J., Hachimi, K. H. E., Depienne, C., Muriel, M., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.12.005 · Cited by 105 · see citing works
H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data
Magi, A., Tattini, L., Palombo, F., Benelli, M., Gialluisi, A., Giusti, B., Abbate, R., Seri, M., Gensini, G. F., Romeo, G. C., et al. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu401 · Cited by 99 · see citing works
Boone, P. M., Yuan, B., Campbell, I. M., Scull, J. C., Withers, M. A., Baggett, B., Beck, C. R., Shaw, C. J., Stankiewicz, P., Moretti, P. M., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.06.014 · Cited by 99 · see citing works
Penetrance and expressivity in the molecular age
Zlotogora, J. (2003) · Genetics in Medicine · doi:10.1097/01.gim.0000086478.87623.69 · Cited by 93 · see citing works
Hereditary spastic paraplegia: More than an upper motor neuron disease
Parodi, L., Fenu, S., Stévanin, G., & Dürr, A. (2017) · Revue Neurologique · doi:10.1016/j.neurol.2017.03.034 · Cited by 91 · see citing works
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations
Svenson, I. K., Kloos, M. T., Gaskell, P. C., NANCE, M. A., Garbern, J. Y., Hisanaga, S., Pericak‐Vance, M. A., Ashley‐Koch, A. E., & Marchuk, D. A. (2004) · Neurogenetics · doi:10.1007/s10048-004-0186-z · Cited by 90 · see citing works
Haraksingh, R., Abyzov, A. S., & Urban, A. E. (2017) · BMC Genomics · doi:10.1186/s12864-017-3658-x · Cited by 83 · see citing works
Morais, S., Raymond, L., Mairey, M., Coutinho, P., Brandão, E., Ribeiro, P., Loureiro, J. L., Sequeiros, J., Brice, A., Alonso, I. D. C. M. P., et al. (2017) · European Journal of Human Genetics · doi:10.1038/ejhg.2017.124 · Cited by 64 · see citing works
Dols‐Icardo, O., García‐Redondo, A., Rojas‐García, R., Borrego‐Hernández, D., Illán‐Gala, I., Muñoz-Blanco, J. L., Rábano, A., Cervera‐Carles, L., Juárez-Rufián, A., Spataro, N., et al. (2017) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2017-316820 · Cited by 63 · see citing works
Lubbe, S. J., Escott-Price, V., Gibbs, J. R., Nalls, M. A., Bras, J., Price, T. R., Nicolas, A., Jansen, I. E., Mok, K. Y., Pittman, A. M., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw348 · Cited by 61 · see citing works
Auer‐Grumbach, M., Toegel, S., Schabhüttl, M., Weinmann, D., Chiari, C., Bennett, D., Beetz, C., Klein, D., Andersen, P. M., Böhme, I., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.07.008 · Cited by 59 · see citing works
The commonality of protein interaction networks determined in neurodegenerative disorders (NDDs)
Limviphuvadh, V., Tanaka, S., Goto, S., Ueda, K., & Kanehisa, M. I. (2007) · Bioinformatics · doi:10.1093/bioinformatics/btm307 · Cited by 57 · see citing works
Burden of rare variants in ALS genes influences survival in familial and sporadic ALS
Pang, S. Y.-Y., Hsu, J. S., Teo, K. C., Li, Y., Kung, M. H. W., Cheah, K. S. E., Chan, D. T.-M., Cheung, K., Li, M., Sham, P. C., et al. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.06.007 · Cited by 57 · see citing works
Maciel, R. D. M., Bis‐Brewer, D. M., Rebelo, A. P., Saghira, C., Zuchner, S. L., & Saporta, M. (2018) · Experimental Neurology · doi:10.1016/j.expneurol.2018.06.008 · Cited by 53 · see citing works
Self-citationKhan, T. N., Klar, J., Tariq, M., Baig, S. A., Malik, N. A., Yousaf, R., Baig, S. M., & Dahl, N. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.5 · Cited by 51 · see citing works
Özeş, B., Karagoz, N., Schüle, R., Rebelo, A. P., Sobrido, M., Harmuth, F., Synofzik, M., Pascual, S. I. P., Colak, M., Ciftci-Kavaklioglu, B., et al. (2017) · Clinical Genetics · doi:10.1111/cge.13008 · Cited by 49 · see citing works
Genetic analysis of age at onset variation in spinocerebellar ataxia type 2
Figueroa, K. P., Coon, H. H., Santos, N., Velázquez‐Pérez, L., Almaguer-Mederos, L. E., & Pulst, S. M. (2017) · Neurology Genetics · doi:10.1212/nxg.0000000000000155 · Cited by 46 · see citing works
Pang, S. Y.-Y., Teo, K. C., Hsu, J. S., Chang, R. S., Li, M., Sham, P. C., & Ho, S. (2017) · Translational Neurodegeneration · doi:10.1186/s40035-017-0098-0 · Cited by 37 · see citing works
Lee, J. Y. W., Hsu, C., Michael, M., Nanda, A., Liu, L., McMillan, J. R., Pourreyron, C., Takeichi, T., Tolar, J., Reid, E., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.01.014 · Cited by 37 · see citing works
Hereditary spastic paraplegia from 1880 to 2017: an historical review
Faber, I., Pereira, E. R., Martínez, A., França, M. C., & Teive, H. A. G. (2017) · Arquivos de Neuro-Psiquiatria · doi:10.1590/0004-282x20170160 · Cited by 37 · see citing works
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia
Newton, T. M., Allison, R. J., Edgar, J. R., Lumb, J. H., Rodger, C. E., Manna, P. T., Rizo, T., Kohl, Z., Nygren, A. O. H., Arning, L., et al. (2018) · Brain · doi:10.1093/brain/awy034 · Cited by 33 · see citing works
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H /SPG35 in 4 families
Soehn, A. S., Rattay, T. W., Beck‐Wödl, S., Schäferhoff, K., Monk, D., Döbler‐Neumann, M., Hörtnagel, K., Schlüter, A., Ruíz, M., Pujol, A., et al. (2016) · Neurology · doi:10.1212/wnl.0000000000002843 · Cited by 30 · see citing works
Erichsen, A. K., Inderhaug, E., Mattingsdal, M., Eiklid, K. L., & Tallaksen, C. M. E. (2007) · European Journal of Neurology · doi:10.1111/j.1468-1331.2007.01861.x · Cited by 30 · see citing works
Varga, R.-E., Schüle, R., Fadel, H., Valenzuela, I., Speziani, F., Gonzalez, M., Руденская, Г. Е., Nürnberg, G., Thiele, H., Altmüller, J., et al. (2013) · Human Mutation · doi:10.1002/humu.22309 · Cited by 29 · see citing works
Bis‐Brewer, D. M., Schüle, R., Reichbauer, J., Synofzik, M., Rattay, T. W., Soehn, A. S., Jonghe, P. D., Schöls, L. J., & Zuchner, S. L. (2017) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.285 · Cited by 29 · see citing works
Self-citationNam, S. H., Kanwal, S., Nam, D. E., Lee, M. H., Kang, T. H., Jung, S., Choi, B., & Chung, K. W. (2018) · Neuromuscular Disorders · doi:10.1016/j.nmd.2018.04.002 · Cited by 23 · see citing works
Anesi, L., de Gemmis, P., Pandolfo, M., & Hladnik, U. (2010) · Journal of Molecular Neuroscience · doi:10.1007/s12031-010-9448-4 · Cited by 21 · see citing works
Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains
Keogh, M. J., Wei, W., Aryaman, J., Wilson, I., Talbot, K., Turner, M. R., McKenzie, C.-A., Troakes, C., Attems, J., Smith, C., et al. (2018) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2017-317234 · Cited by 19 · see citing works
A network biology approach to unraveling inherited axonopathies
Bis‐Brewer, D. M., Danzi, M. C., Wuchty, S., & Zuchner, S. L. (2019) · Scientific Reports · doi:10.1038/s41598-018-37119-z · Cited by 19 · see citing works
Self-citationSPAST mutations in A ustralian patients with hereditary spastic paraplegia
Vandebona, H., Kerr, N. P., Liang, C., & Sue, C. M. (2012) · Internal Medicine Journal · doi:10.1111/j.1445-5994.2012.02941.x · Cited by 17 · see citing works
Giannoccaro, M. P., Liguori, R., Arnoldi, A., Donadio, V. A., Avoni, P., & Bassi, M. T. (2014) · Journal of Neurology · doi:10.1007/s00415-014-7443-3 · Cited by 17 · see citing works
Bettencourt, C., Quintáns, B., Ros, R., Ampuero, I., Yáñez, Z., Pascual, S. I. P., de Yébenes, J. G., & Sobrido, M. (2012) · Human Mutation · doi:10.1002/humu.22148 · Cited by 16 · see citing works
Fridman, V., & Murphy, S. M. (2014) · Neurology · doi:10.1212/wnl.0000000000000700 · Cited by 15 · see citing works
De novo REEP2 missense mutation in pure hereditary spastic paraplegia
Roda, R. H., Schindler, A. B., & Blackstone, C. D. (2017) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.404 · Cited by 14 · see citing works
Varga, R.-E., Mumtaz, R., Jahić, A., Rudenskaya, G. E., Sánchez-Ferrero, E., Auer‐Grumbach, M., Hübner, C. A., & Beetz, C. (2011) · Analytical Biochemistry · doi:10.1016/j.ab.2011.12.002 · Cited by 14 · see citing works
Challenges in Rare Variant Association Studies for Complex Kidney Traits: CFHR5 and IgA Nephropathy
Kiryluk, K. (2016) · Journal of the American Society of Nephrology · doi:10.1681/asn.2016040383 · Cited by 5 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- [77]Marras C Lang A van de Warrenburg BP Sue CM Tabrizi SJ Bertram L. Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society task force. Mov Disord. (2017) 32: 724– 25. 10.1002/mds.27045 28513081 · DOI
Cited by
Sorted by citations
Rattay, T. W., Rautenberg, M., Söhn, A. S., Hengel, H., Traschütz, A., Röben, B., Hayer, S. N., Schüle, R., Wiethoff, S., Zeltner, L., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-71248-8 · Cited by 61 · see citing works
- Authors
- Bis-Brewer, D. M., & Züchner, S.
- Venue
- Frontiers in Neurology
- Publisher
- Frontiers Media SA
- Published
- 2018-11-26
- Volume
- 9
- Pages
- 958-958
- ISSN
- 1664-2295 (ISSN-L)
- PMC
- PMC6275194
- OpenAlex
- W2898383900
- Cited by
- 31
- References
- 84
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 3 · 2023: 2 · 2022: 4 · 2021: 2 · 2020: 5 · 2019: 7
- FWCI
- 0.45
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Frontiers in Neurology (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS072248, F31NS106859)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- hereditary spastic paraplegia, non-Mendelian inheritance, missing heritability, genetic diagnosis, sporadic cases, gene therapy, genetic heterogeneity
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
