ArticleNeurology. Genetics2018
Novel genotype-phenotype and MRI correlations in a large cohort of patients with
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 1 pooled it
3.1field-weighted citation impact, top 7% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Pooled it
- Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.Neurogenetics · 2026Article
- Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia.Journal of neurology · 2025Article
- Progress and challenges in sporadic late-onset cerebellar ataxias.Nature reviews. Neurology · 2025Review
- Deciphering Spastic Ataxia: Clinical and Genetic Profiles.Neurology. Genetics · 2025Article
- The Neuro-Ophthalmologic Manifestations ofJournal of personalized medicine · 2025Review
- Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.Clinical genetics · 2025Article
- Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.Brain : a journal of neurology · 2025Article
- Clinical features and genotype in COQ4 associated hereditary spastic paraplegia: a case report and a literature reanalysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias.Cerebellum (London, England) · 2024Review
- Article
- Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features.Frontiers in integrative neuroscience · 2023Article
- Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.Journal of neurology · 2022Article
- The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.International journal of molecular sciences · 2022Review
- Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.Journal of neurology · 2022Article
- A Guide for the Differential Diagnosis of Multiple System Atrophy in Clinical Practice.Journal of Parkinson's disease · 2022Review
- Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.Journal of neurology · 2021Article
- Hereditary Spastic Paraplegia 7 Presenting as Multifocal Dystonia with Prominent Cranio-Cervical Involvement.Movement disorders clinical practice · 2021Article
- Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.Neuroradiology · 2021Review
- Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.Annals of clinical and translational neurology · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
16 authors at 1 institution in 1 country.
Channa A HewamaddumaAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Nigel HoggardAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Ronan O'MalleyAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Megan K RobinsonAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Nick J BeauchampAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Ruta SegamogaiteAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Jo MartindaleAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Tobias RodgersAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Ganesh RaoAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Ptolemaios SarrigiannisAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Priya ShanmugarajahAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Panagiotis ZisAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Basil SharrackAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Christopher J McDermottAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Pamela J ShawAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Marios HadjivassiliouAcademic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
Royal Hallamshire Hospital · GB
Funding
Motor Neurone Disease Association SHAW/APR15/933-794
Abstract
objectiveTo clinically, genetically, and radiologically characterize a large cohort of
methodsWe used data from next-generation sequencing panels for ataxias and hereditary spastic paraplegia to identify a characteristic phenotype that helped direct genetic testing for variations in
resultsWe identified 42 cases with biallelic
conclusionsMutant
Identifiers
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