ArticleNeurology. Genetics2023
Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating
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Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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0cells of the map it votes in
4citing papers in PubMed
0.8field-weighted citation impact, top 28% of its field
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- The pathogenesis of cerebral small vessel disease and vascular cognitive impairment.Physiological reviews · 2025Review
- Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype-phenotype correlations and suggests its role in glial cells.Human molecular genetics · 2025Article
- Pathophysiology of cerebral small vessel disease: a journey through recent discoveries.The Journal of clinical investigation · 2024Review
- Genetic Disorders That Confer Risk for the Development of Psychosis and White Matter Hyperintensities on T2-weighted Imaging: A Practical Guide for Psychiatrists.Innovations in clinical neuroscienceReview
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Authors and funding
11 authors at 1 institution in 1 country.
Hélène MorelUniversité de Paris (H.M., D.H., C.A., E.T.-L.), INSERM UMR 1141 NeuroDiderot; AP-HP (H.M., E.T.-L.), Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis; Reference Centre for Rare or Early-Onset Dementias (L.B., R.L.B., R.L.), IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris; Centre Hospitalier Départemental La Roche-Sur-Yon (C.U.), Service de Neurologie, La Roche-Sur-Yon; AP-HP (D.H.), CERVCO, Centre de Neurologie Vasculaire Translationnelle, Hôpital Lariboisière; Service de Neurologie (S.B.), Centre Hospitalier Alpes Leman, Contamine sur Arve; and Service de Neurologie (M.M., G.M.), Centre Hospitalier Regional Universitaire de Nancy, France.
Laurent BaillyUniversité de Paris (H.M., D.H., C.A., E.T.-L.), INSERM UMR 1141 NeuroDiderot; AP-HP (H.M., E.T.-L.), Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis; Reference Centre for Rare or Early-Onset Dementias (L.B., R.L.B., R.L.), IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris; Centre Hospitalier Départemental La Roche-Sur-Yon (C.U.), Service de Neurologie, La Roche-Sur-Yon; AP-HP (D.H.), CERVCO, Centre de Neurologie Vasculaire Translationnelle, Hôpital Lariboisière; Service de Neurologie (S.B.), Centre Hospitalier Alpes Leman, Contamine sur Arve; and Service de Neurologie (M.M., G.M.), Centre Hospitalier Regional Universitaire de Nancy, France.
Cédric UrbanczykUniversité de Paris (H.M., D.H., C.A., E.T.-L.), INSERM UMR 1141 NeuroDiderot; AP-HP (H.M., E.T.-L.), Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis; Reference Centre for Rare or Early-Onset Dementias (L.B., R.L.B., R.L.), IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris; Centre Hospitalier Départemental La Roche-Sur-Yon (C.U.), Service de Neurologie, La Roche-Sur-Yon; AP-HP (D.H.), CERVCO, Centre de Neurologie Vasculaire Translationnelle, Hôpital Lariboisière; Service de Neurologie (S.B.), Centre Hospitalier Alpes Leman, Contamine sur Arve; and Service de Neurologie (M.M., G.M.), Centre Hospitalier Regional Universitaire de Nancy, France.
Dominique HervéUniversité de Paris (H.M., D.H., C.A., E.T.-L.), INSERM UMR 1141 NeuroDiderot; AP-HP (H.M., E.T.-L.), Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis; Reference Centre for Rare or Early-Onset Dementias (L.B., R.L.B., R.L.), IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris; Centre Hospitalier Départemental La Roche-Sur-Yon (C.U.), Service de Neurologie, La Roche-Sur-Yon; AP-HP (D.H.), CERVCO, Centre de Neurologie Vasculaire Translationnelle, Hôpital Lariboisière; Service de Neurologie (S.B.), Centre Hospitalier Alpes Leman, Contamine sur Arve; and Service de Neurologie (M.M., G.M.), Centre Hospitalier Regional Universitaire de Nancy, France.
Stéphane BerroirUniversité de Paris (H.M., D.H., C.A., E.T.-L.), INSERM UMR 1141 NeuroDiderot; AP-HP (H.M., E.T.-L.), Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis; Reference Centre for Rare or Early-Onset Dementias (L.B., R.L.B., R.L.), IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris; Centre Hospitalier Départemental La Roche-Sur-Yon (C.U.), Service de Neurologie, La Roche-Sur-Yon; AP-HP (D.H.), CERVCO, Centre de Neurologie Vasculaire Translationnelle, Hôpital Lariboisière; Service de Neurologie (S.B.), Centre Hospitalier Alpes Leman, Contamine sur Arve; and Service de Neurologie (M.M., G.M.), Centre Hospitalier Regional Universitaire de Nancy, France.
Raphaël Le BoucUniversité de Paris (H.M., D.H., C.A., E.T.-L.), INSERM UMR 1141 NeuroDiderot; AP-HP (H.M., E.T.-L.), Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis; Reference Centre for Rare or Early-Onset Dementias (L.B., R.L.B., R.L.), IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris; Centre Hospitalier Départemental La Roche-Sur-Yon (C.U.), Service de Neurologie, La Roche-Sur-Yon; AP-HP (D.H.), CERVCO, Centre de Neurologie Vasculaire Translationnelle, Hôpital Lariboisière; Service de Neurologie (S.B.), Centre Hospitalier Alpes Leman, Contamine sur Arve; and Service de Neurologie (M.M., G.M.), Centre Hospitalier Regional Universitaire de Nancy, France.
Richard LevyUniversité de Paris (H.M., D.H., C.A., E.T.-L.), INSERM UMR 1141 NeuroDiderot; AP-HP (H.M., E.T.-L.), Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis; Reference Centre for Rare or Early-Onset Dementias (L.B., R.L.B., R.L.), IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris; Centre Hospitalier Départemental La Roche-Sur-Yon (C.U.), Service de Neurologie, La Roche-Sur-Yon; AP-HP (D.H.), CERVCO, Centre de Neurologie Vasculaire Translationnelle, Hôpital Lariboisière; Service de Neurologie (S.B.), Centre Hospitalier Alpes Leman, Contamine sur Arve; and Service de Neurologie (M.M., G.M.), Centre Hospitalier Regional Universitaire de Nancy, France.
Mylène MeyerUniversité de Paris (H.M., D.H., C.A., E.T.-L.), INSERM UMR 1141 NeuroDiderot; AP-HP (H.M., E.T.-L.), Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis; Reference Centre for Rare or Early-Onset Dementias (L.B., R.L.B., R.L.), IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris; Centre Hospitalier Départemental La Roche-Sur-Yon (C.U.), Service de Neurologie, La Roche-Sur-Yon; AP-HP (D.H.), CERVCO, Centre de Neurologie Vasculaire Translationnelle, Hôpital Lariboisière; Service de Neurologie (S.B.), Centre Hospitalier Alpes Leman, Contamine sur Arve; and Service de Neurologie (M.M., G.M.), Centre Hospitalier Regional Universitaire de Nancy, France.
Chaker AlouiUniversité de Paris (H.M., D.H., C.A., E.T.-L.), INSERM UMR 1141 NeuroDiderot; AP-HP (H.M., E.T.-L.), Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis; Reference Centre for Rare or Early-Onset Dementias (L.B., R.L.B., R.L.), IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris; Centre Hospitalier Départemental La Roche-Sur-Yon (C.U.), Service de Neurologie, La Roche-Sur-Yon; AP-HP (D.H.), CERVCO, Centre de Neurologie Vasculaire Translationnelle, Hôpital Lariboisière; Service de Neurologie (S.B.), Centre Hospitalier Alpes Leman, Contamine sur Arve; and Service de Neurologie (M.M., G.M.), Centre Hospitalier Regional Universitaire de Nancy, France.
Elisabeth Tournier-LasserveUniversité de Paris (H.M., D.H., C.A., E.T.-L.), INSERM UMR 1141 NeuroDiderot; AP-HP (H.M., E.T.-L.), Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis; Reference Centre for Rare or Early-Onset Dementias (L.B., R.L.B., R.L.), IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris; Centre Hospitalier Départemental La Roche-Sur-Yon (C.U.), Service de Neurologie, La Roche-Sur-Yon; AP-HP (D.H.), CERVCO, Centre de Neurologie Vasculaire Translationnelle, Hôpital Lariboisière; Service de Neurologie (S.B.), Centre Hospitalier Alpes Leman, Contamine sur Arve; and Service de Neurologie (M.M., G.M.), Centre Hospitalier Regional Universitaire de Nancy, France.
Guillaume MatheyUniversité de Paris (H.M., D.H., C.A., E.T.-L.), INSERM UMR 1141 NeuroDiderot; AP-HP (H.M., E.T.-L.), Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis; Reference Centre for Rare or Early-Onset Dementias (L.B., R.L.B., R.L.), IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris; Centre Hospitalier Départemental La Roche-Sur-Yon (C.U.), Service de Neurologie, La Roche-Sur-Yon; AP-HP (D.H.), CERVCO, Centre de Neurologie Vasculaire Translationnelle, Hôpital Lariboisière; Service de Neurologie (S.B.), Centre Hospitalier Alpes Leman, Contamine sur Arve; and Service de Neurologie (M.M., G.M.), Centre Hospitalier Regional Universitaire de Nancy, France.
Inserm · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: To refine the clinical spectrum of a very recently identified phenotype associated with Methods: Detailed clinical, neuropsychological, and MRI investigation of 6 patients from 2 unrelated families segregating end-truncating Results: All patients harbored Discussion: The association of an extensive leukoencephalopathy with an episodic memory dysfunction of the hippocampal type is strongly suggestive of a
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