ArticleFrontiers in neurology2018
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
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Article in Frontiers in neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 5 of them syntheses that pooled it.
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53citing papers in PubMed, 5 pooled it
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Who cites it
53 citing papers in PubMed, 5 syntheses or guidelines pooled it, 83 citations in OpenAlex.
- Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.Brain : a journal of neurology · 2024Pooled it
- Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.Journal of neurology · 2022Pooled it
- Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.Journal of neurology · 2021Pooled it
- Selective dorsal rhizotomy for spasticity of genetic etiology.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Pooled it
- Pooled it
- Neurodevelopmental alterations are key drivers of SPG56.Human molecular genetics · 2026Article
- Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Orphanet journal of rare diseases · 2026Article
- Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.Human genomics · 2026Article
- Hereditary spastic paraplegia: from decades of therapy to future innovations.Therapeutic advances in neurological disorders · 2026Review
- High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.Movement disorders clinical practice · 2025Article
- DDHD2 provides a flux of saturated fatty acids for neuronal energy and function.Nature metabolism · 2025Article
- Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability.Molecular syndromology · 2025Article
- Small Complex Rearrangement inGenes · 2024Article
- Axon demyelination and degeneration in a zebrafishOpen biology · 2024Article
- Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia.Biochimica et biophysica acta. Molecular basis of disease · 2024Article
- Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.Neurogenetics · 2024Article
- Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.Neurogenetics · 2024Review
- Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.Journal of neurology · 2024Article
- Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.Annals of clinical and translational neurology · 2023Article
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Authors and funding
53 authors at 20 institutions in 3 countries.
Angelica D'AmoreMolecular Medicine, Pisa, Italy.
Alessandra TessaMolecular Medicine, Pisa, Italy.
Carlo CasaliDepartment of Medical and Surgical Sciences and Biotechnologies, University of Rome Sapienza, Latina, Italy.
Maria Teresa DottiDepartment of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
Alessandro FillaDepartment of Neurosciences, Reproductive and Odontostomatologic Sciences, Federico II University, Naples, Italy.
Gabriella SilvestriIRCCS Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.
Antonella AntenoraDepartment of Neurosciences, Reproductive and Odontostomatologic Sciences, Federico II University, Naples, Italy.
Guja AstreaMolecular Medicine, Pisa, Italy.
Melissa BarghigianiMolecular Medicine, Pisa, Italy.
Roberta BattiniMolecular Medicine, Pisa, Italy.
Carla BattistiDepartment of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
Irene BrunoDepartment of Pediatrics, Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy.
Cristina CeredaGenomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.
Clemente DatoSecond Division of Neurology, Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, University of Luigi Vanvitelli, Naples, Italy.
Giuseppe Di IorioSecond Division of Neurology, Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, University of Luigi Vanvitelli, Naples, Italy.
Vincenzo DonadioIRCCS Istituto delle Scienze Neurologiche di Bologna-UOC Clinica Neurologica, Bologna, Italy.
Monica FelicoriIstituto delle Scienze Neurologiche di Bologna-UOC Neuropsichiatria Infantile, Bologna, Italy.
Nicola FiniDepartment of Neurosciences, Sant'Agostino-Estense Hospital, Azienda Ospedaliero Universitaria di Modena, Modena, Italy.
Chiara FiorilloPediatric Neurology and Neuromuscular Disorders, University of Genoa and Istituto Giannina Gaslini, Genova, Italy.
Salvatore GalloneNeurology I, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza, Turin, Italy.
Federica GemignaniDepartment of Biology, University of Pisa, Pisa, Italy.
Gian Luigi GigliNeurology Clinic, Azienda Ospedaliero Universitaria Santa Maria della Misericordia, Udine, Italy.
Claudio GrazianoMedical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Renzo GuerriniPediatric Neurology Unit, Children's Hospital A. Meyer, University of Firenze, Florence, Italy.
Fiorella GurrieriInstitute of Genomic Medicine, Catholic University of the Sacred Heart, Rome, Italy.
Ariana KariminejadClinical Genetics, Kariminejad-Najmabadi Pathology & Genetics Research Center, Tehran, Iran.
Maria LietoDepartment of Neurosciences, Reproductive and Odontostomatologic Sciences, Federico II University, Naples, Italy.
Charles Marques LourenḈoNeurogenetics Division, Clinics Hospital of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
Alessandro MalandriniDepartment of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
Paola MandichDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy.
Christian MarcotulliDepartment of Medical and Surgical Sciences and Biotechnologies, University of Rome Sapienza, Latina, Italy.
Francesco MariPediatric Neurology Unit, Children's Hospital A. Meyer, University of Firenze, Florence, Italy.
Luca MassacesiDepartment of Neurosciences Drugs and Child Health, University of Florence, Florence, Italy.
Maria A B MeloneSecond Division of Neurology, Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, University of Luigi Vanvitelli, Naples, Italy.
Andrea MignarriDepartment of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
Roberta MiloneChild Neuropsychiatry, ULSS 7 Pedemontana, Vicenza, Italy.
Olimpia MusumeciDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Elena PegoraroDepartment of Neurosciences, University of Padua, Padua, Italy.
Alessia PernaIRCCS Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.
Antonio PetrucciNeurology Department, San Camillo Hospital, Rome, Italy.
Antonella PiniIstituto delle Scienze Neurologiche di Bologna-UOC Neuropsichiatria Infantile, Bologna, Italy.
Francesca PochieroMetabolic and Muscular Unit, Neuroscience Department, Meyer Children's Hospital, Florence, Italy.
Maria Roser PonsFirst Department of Pediatrics, Aghia Sophia Children's Hospital, University of Athens, Athens, Greece.
Ivana RiccaMolecular Medicine, Pisa, Italy.
Salvatore RossiIRCCS Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.
Marco SeriMedical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Franco StanzialClinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
Francesca TinelliMolecular Medicine, Pisa, Italy.
Antonio ToscanoDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Mariarosaria ValenteNeurology Clinic, Azienda Ospedaliero Universitaria Santa Maria della Misericordia, Udine, Italy.
Antonio FedericoDepartment of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
Anna RubegniMolecular Medicine, Pisa, Italy.
Filippo Maria SantorelliMolecular Medicine, Pisa, Italy.
European School of Molecular Medicine · ITUniversity of Siena · ITFederico II University Hospital · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITIstituto delle Scienze Neurologiche di Bologna · ITMeyer Children's Hospital · ITUniversity of Campania "Luigi Vanvitelli" · ITOspedale Santa Maria · ITSapienza University of Rome · ITUniversity of Messina · ITUniversity of Pisa · ITAzienda Ospedaliera Citta' della Salute e della Scienza di Torino · ITAzienda Unita' Sanitaria Locale Di Modena · ITCenter for Genomic Science · ITIRCCS Materno Infantile Burlo Garofolo · ITIRCCS San Camillo Hospital · ITIstituto Giannina Gaslini · ITNational and Kapodistrian University of Athens · GROspedale di Bolzano · ITPoliclinico S.Orsola-Malpighi · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential disease-associated genes-and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming. In a single-center, cross-sectional study, spanning 4 years, 239 subjects with a clinical diagnosis of HSP underwent molecular screening of a large set of genes, using two different customized NGS panels. The latest version of our targeted sequencing panel (
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diagnostic yieldhereditary spastic paraplegianeurogeneticsnext generation sequencingvariants of unknown significance
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