Longitudinal predictors of health-related quality of life in isolated dystonia.
Junker J, Hall J, Berman BD, Vidailhet M, Roze E, Bäumer T, Malaty IA, Shukla AW, Jankovic J, Reich SG, Espay AJ, Duque KR, Patel N, Perlmutter JS, Jinnah HA; Dystonia Coalition Study Group; Brandt V, Brüggemann N.
J Neurol. 2024 Feb;271(2):852-863. doi: 10.1007/s00415-023-12022-4. Epub 2023 Oct 15.
PMID: 37839041 Free PMC article.
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
Mancuso M, Lopriore P, Lamperti C, et al. Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey. J Neurol. 2024;271(2):835-840. doi:10.1007/s00415-023-12017-1
PMID: 37831128
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Nanetti L, Kearney M, Boesch S, et al. Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND). Neurol Sci. 2024;45(3):1007-1016. doi:10.1007/s10072-023-07101-3
PMID: 37853291
Progressive Brain Atrophy in Multiple System Atrophy: A Longitudinal, Multicenter, Magnetic Resonance Imaging Study.
Krismer F, Péran P, Beliveau V, et al. Progressive Brain Atrophy in Multiple System Atrophy: A Longitudinal, Multicenter, Magnetic Resonance Imaging Study. Mov Disord. 2024;39(1):119-129. doi:10.1002/mds.29633
PMID: 37933745
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Faber J, Berger M, Wilke C, et al. Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3. Ann Neurol. 2024;95(2):400-406. doi:10.1002/ana.26824
PMID: 37962377
SOXopathies and dystonia: Consolidation of a recurrent association.
Indelicato E, Boesch S, Havrankova P, et al. SOXopathies and dystonia: Consolidation of a recurrent association. Parkinsonism Relat Disord. 2024;119:105960. doi:10.1016/j.parkreldis.2023.105960
PMID: 38141365
Diagnostic accuracy of research criteria for prodromal frontotemporal dementia.
Benussi A, Premi E, Grassi M, et al. Diagnostic accuracy of research criteria for prodromal frontotemporal dementia. Alzheimers Res Ther. 2024;16(1):10. Published 2024 Jan 12. doi:10.1186/s13195-024-01383-1
PMID: 38216961
Adaptive behavior assessed by Vineland-3 as comprehensive outcome measure in vanishing white matter.
Schoenmakers DH, van Beelen I, Voermans MMC, et al. Adaptive behavior assessed by Vineland-3 as comprehensive outcome measure in vanishing white matter. Ann Clin Transl Neurol. 2024;11(3):650-661. doi:10.1002/acn3.51985
PMID: 38217081
NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study.
Linnemann C, Wilke C, Mengel D, et al. NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study. J Neurol Neurosurg Psychiatry. 2024;95(9):822-828. Published 2024 Aug 16. doi:10.1136/jnnp-2023-332464
PMID: 38253362
Deep neurological phenotyping in oculo-dento-digital syndrome.
Lopriore P, Vista M, Maritato P, et al. Deep neurological phenotyping in oculo-dento-digital syndrome. Neurol Sci. 2024;45(6):2853-2857. doi:10.1007/s10072-024-07331-z
PMID: 38253744
Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia.
Weber N, Buchholz M, Rädke A, et al. Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia. Cerebellum. 2024;23(4):1466-1477. doi:10.1007/s12311-024-01657-2
PMID: 38279001
Prevalence and burden of pain across the entire spectrum of Huntington’s disease.
Sprenger GP, van Zwet EW, Bakels HS, Achterberg WP, Roos RA, de Bot ST. Prevalence and burden of pain across the entire spectrum of Huntington’s disease. J Neurol Neurosurg Psychiatry. 2024;95(7):647-655. Published 2024 Jun 17. doi:10.1136/jnnp-2023-332992
PMID: 38290837
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
Schoenmakers DH, Mochel F, Adang LA, et al. Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries. Orphanet J Rare Dis. 2024;19(1):46. Published 2024 Feb 7. doi:10.1186/s13023-024-03075-3
PMID: 38326898
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases.
Graessner H, Reinhard C, Bäumer T, et al. Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases. Orphanet J Rare Dis. 2024;19(1):62. Published 2024 Feb 13. doi:10.1186/s13023-024-03023-1
PMID: 38347616
Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.
Ferreira M, Schaprian T, Kügler D, et al. Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration. Cerebellum. 2024;23(4):1521-1529. doi:10.1007/s12311-024-01659-0
PMID: 38363498
Recent Advances in Clinical Trials in Multiple System Atrophy.
Bendetowicz D, Fabbri M, Sirna F, et al. Recent Advances in Clinical Trials in Multiple System Atrophy. Curr Neurol Neurosci Rep. 2024;24(4):95-112. doi:10.1007/s11910-024-01335-0
PMID: 38416311
Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights.
Pérez-Oliveira S, Castilla-Silgado J, Painous C, et al. Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights. Brain Pathol. 2024;34(4):e13250. doi:10.1111/bpa.13250
PMID: 38418081
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Raposo M, Hübener-Schmid J, Tagett R, et al. Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease. Neurobiol Dis. 2024;193:106456. doi:10.1016/j.nbd.2024.106456
PMID: 38423193
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders.
Indelicato E, Romito LM, Harrer P, et al. Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders. Mov Disord. 2024;39(7):1237-1238. doi:10.1002/mds.29797
PMID: 38516945
Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management.
Laugwitz L, Schoenmakers DH, Adang LA, et al. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management. Eur J Paediatr Neurol. 2024;49:141-154. doi:10.1016/j.ejpn.2024.03.003
PMID: 38554683
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Mancuso M, Papadopoulou MT, Ng YS, et al. Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group. Eur J Neurol. 2024;31(7):e16275. doi:10.1111/ene.16275
PMID: 38576261
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia.
Samra K, Peakman G, MacDougall AM, et al. Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia. Alzheimers Dement (Amst). 2024;16(2):e12571. Published 2024 Apr 14. doi:10.1002/dad2.12571
PMID: 38623386
Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results.
Pasternak M, Mirza SS, Luciw N, et al. Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results. Alzheimers Dement. 2024;20(5):3525-3542. doi:10.1002/alz.13750
PMID: 38623902
Genome sequence analyses identify novel risk loci for multiple system atrophy.
Chia R, Ray A, Shah Z, et al. Genome sequence analyses identify novel risk loci for multiple system atrophy. Neuron. 2024;112(13):2142-2156.e5. doi:10.1016/j.neuron.2024.04.002
PMID: 38701790
Status epilepticus in POLG disease: a large multinational study.
Hikmat O, Naess K, Engvall M, et al. Status epilepticus in POLG disease: a large multinational study. J Neurol. 2024;271(8):5156-5164. doi:10.1007/s00415-024-12463-5
PMID: 38822839
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, et al. Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation. Mov Disord. 2024;39(9):1578-1591. doi:10.1002/mds.29881
PMID: 38881224
Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders.
Nou-Fontanet L, Nguyen QTR, Bachoud-Levi AC, Reinhard C; Chorea & Huntington Disease Group ERN-RND, Ortigoza-Escobar JD. Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders. Eur J Paediatr Neurol. 2024;51:110-117. doi:10.1016/j.ejpn.2024.06.007
PMID: 38917695
The Growing Role of Telerehabilitation and Teleassessment in the Management of Movement Disorders in Rare Neurological Diseases: A Scoping Review.
Lavorgna L, Maida E, Reinhard C, et al. The Growing Role of Telerehabilitation and Teleassessment in the Management of Movement Disorders in Rare Neurological Diseases: A Scoping Review. Telemed J E Health. 2024;30(9):2419-2430. doi:10.1089/tmj.2023.0702
PMID: 38946606
Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice.
Amato ME, Darling A, Stovickova L, et al. Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice. Eur J Paediatr Neurol. 2024;52:10-19. doi:10.1016/j.ejpn.2024.06.011
PMID: 38970889
Development of the Huntington Support App (HD-eHelp study): a human-centered and co-design approach.
van Lonkhuizen PJC, Heemskerk AW, Meijer E, et al. Development of the Huntington Support App (HD-eHelp study): a human-centered and co-design approach. Front Neurol. 2024;15:1399126. Published 2024 Jul 1. doi:10.3389/fneur.2024.1399126
PMID: 39011363
Impaired glymphatic system in genetic frontotemporal dementia: a GENFI study.
Premi E, Diano M, Mattioli I, et al. Impaired glymphatic system in genetic frontotemporal dementia: a GENFI study. Brain Commun. 2024;6(4):fcae185. Published 2024 Jun 14. doi:10.1093/braincomms/fcae185
PMID: 39015769
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
Weber JJ, Czisch L, Pereira Sena P, et al. The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. Acta Neuropathol. 2024;148(1):14. Published 2024 Aug 1. doi:10.1007/s00401-024-02762-6
PMID: 39088078
Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study.
Serpente M, Fenoglio C, Arcaro M, et al. Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study. J Alzheimers Dis. 2024;100(s1):S187-S196. doi:10.3233/JAD-240557
PMID: 39121124
Inflammatory plasma profile in genetic symptomatic and presymptomatic Frontotemporal Dementia – A GENFI study.
Fenoglio C, Serpente M, Arcaro M, et al. Inflammatory plasma profile in genetic symptomatic and presymptomatic Frontotemporal Dementia – A GENFI study. Brain Behav Immun. 2024;122:231-240. doi:10.1016/j.bbi.2024.08.030
PMID: 39153518
Frequency and Longitudinal Course of Behavioral and Neuropsychiatric Symptoms in Participants With Genetic Frontotemporal Dementia.
Schönecker S, Martinez-Murcia FJ, Denecke J, et al. Frequency and Longitudinal Course of Behavioral and Neuropsychiatric Symptoms in Participants With Genetic Frontotemporal Dementia. Neurology. 2024;103(8):e209569. doi:10.1212/WNL.0000000000209569
PMID: 39284109
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, et al. An interconnected data infrastructure to support large-scale rare disease research. Gigascience. 2024;13:giae058. doi:10.1093/gigascience/giae058
PMID: 39302238
Frontoparietal network integrity supports cognitive function in pre-symptomatic frontotemporal dementia: Multimodal analysis of brain function, structure, and perfusion.
Liu X, Jones PS, Pasternak M, et al. Frontoparietal network integrity supports cognitive function in pre-symptomatic frontotemporal dementia: Multimodal analysis of brain function, structure, and perfusion. Alzheimers Dement. 2024;20(12):8576-8594. doi:10.1002/alz.14299
PMID: 39417382
Pharmacotherapy for behavioural manifestations in frontotemporal dementia: An expert consensus from the European Reference Network for Rare Neurological Diseases (ERN-RND).
Wittebrood C, Boban M, Cagnin A, et al. Pharmacotherapy for behavioural manifestations in frontotemporal dementia: An expert consensus from the European Reference Network for Rare Neurological Diseases (ERN-RND). Eur J Neurol. 2024;31(12):e16446. doi:10.1111/ene.16446
PMID: 39447217
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, et al. Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. NPJ Genom Med. 2024;9(1):49. Published 2024 Oct 26. doi:10.1038/s41525-024-00436-6
PMID: 39461972
Association of Initial Side of Brain Atrophy With Clinical Features and Disease Progression in Patients With GRN Frontotemporal Dementia.
Borrego-Ecija S, Juncà-Parella J, Vandebergh M, et al. Association of Initial Side of Brain Atrophy With Clinical Features and Disease Progression in Patients With GRN Frontotemporal Dementia. Neurology. 2024;103(11):e209944. doi:10.1212/WNL.0000000000209944
PMID: 39527772
Association of Changes in Cerebral and Hypothalamic Structure With Sleep Dysfunction in Patients With Genetic Frontotemporal Dementia.
Best PT, Van Swieten JC, Jiskoot LC, et al. Association of Changes in Cerebral and Hypothalamic Structure With Sleep Dysfunction in Patients With Genetic Frontotemporal Dementia. Neurology. 2024;103(11):e209829. doi:10.1212/WNL.0000000000209829
PMID: 39527773
Cognitive impairment predicts medication discrepancies in Huntington’s Disease: patient self-report compared to pharmacy records.
Feleus S, Vo MTD, Kuijper LCM, Roos RAC, de Bot ST. Cognitive impairment predicts medication discrepancies in Huntington’s Disease: patient self-report compared to pharmacy records. J Neurol. 2024;272(1):55. Published 2024 Dec 12. doi:10.1007/s00415-024-12728-z
PMID: 39665851
Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series.
Beerepoot S, Boelens JJ, Lindemans C, et al. Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series. J Neurol. 2024;271(7):4028-4038. doi:10.1007/s00415-024-12322-3
PMID: 38564053
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network.
Maver A, Lohmann K, Borovečki F, et al. Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network. Eur J Hum Genet. 2024;32(8):1014-1021. doi:10.1038/s41431-024-01639-2
PMID 38839988
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.
Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Dankova M, Traschütz A, Tarnutzer AA.
Cerebellum. 2024 Feb;23(1):121-135. doi: 10.1007/s12311-023-01514-8. Epub 2023 Jan 14.
PMID: 36640220 Free PMC article.
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.
Beijer D, Fogel BL, Beltran S, Danzi MC, Németh AH, Züchner S, Synofzik M; AGI Ataxia NGS genomics, platforms Working Group.
Cerebellum. 2024 Apr;23(2):391-400. doi: 10.1007/s12311-023-01537-1. Epub 2023 Mar 4.
PMID: 36869969 Free PMC article.
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
Lynch DR, Goldsberry A, Rummey C, Farmer J, Boesch S, Delatycki MB, Giunti P, Hoyle JC, Mariotti C, Mathews KD, Nachbauer W, Perlman S, Subramony SH, Wilmot G, Zesiewicz T, Weissfeld L, Meyer C.
Ann Clin Transl Neurol. 2024 Jan;11(1):4-16. doi: 10.1002/acn3.51897. Epub 2023 Sep 10.
PMID: 37691319 Free PMC article.
Predictors of Survival in Friedreich’s Ataxia: A Prospective Cohort Study.
Indelicato E, Reetz K, Maier S, Nachbauer W, Amprosi M, Giunti P, Mariotti C, Durr A, de Rivera Garrido FJR, Klopstock T, Schöls L, Klockgether T, Bürk K, Pandolfo M, Didszun C, Grobe-Einsler M, Nanetti L, Nenning L, Kiechl S, Dichtl W, Ulmer H, Schulz JB, Boesch S; European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS). Predictors of Survival in Friedreich’s Ataxia: A Prospective Cohort Study.
Mov Disord. 2024 Mar;39(3):510-518. doi: 10.1002/mds.29687. Epub 2023 Dec 23.
PMID: 38140802
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Thomsen M, Marth K, Loens S, Everding J, Junker J, Borngräber F, Ott F, Jesús S, Gelderblom M, Odorfer T, Kuhlenbäumer G, Kim HJ, Schaeffer E, Becktepe J, Kasten M, Brüggemann N, Pfister R, Kollewe K, Krauss JK, Lohmann E, Hinrichs F, Berg D, Jeon B, Busch H, Altenmüller E, Mir P, Kamm C, Volkmann J, Zittel S, Ferbert A, Zeuner KE, Rolfs A, Bauer P, Kühn AA, Bäumer T, Klein C, Lohmann K. Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Mov Disord. 2024 Mar;39(3):526-538. doi: 10.1002/mds.29693. Epub 2024 Jan 12.
PMID: 38214203