POLR3A variants with striatal involvement and extrapyramidal movement disorder
| العنوان: | POLR3A variants with striatal involvement and extrapyramidal movement disorder |
|---|---|
| المؤلفون: | Murtadha Al-Saady, Richard J. Huntsman, Maaike Vreeburg, Annette Bley, Aurora Pujol, Maja Hempel, Ingeborg Krägeloh-Mann, Marjo S van der Knaap, Agustí Rodríguez-Palmero, Tatjana Bierhals, Inga Harting, Stephanie Karch, Ute Moog, Nicole I. Wolf, Geneviève Bernard, Petra J. W. Pouwels, Rosalina M. L. van Spaendonk |
| المساهمون: | Functional Genomics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Pediatric surgery, Human genetics, Amsterdam Neuroscience - Brain Imaging, Radiology and nuclear medicine |
| المصدر: | Dipòsit Digital de la UB Universidad de Barcelona Neurogenetics, 21(2), 121-133. Springer Verlag Neurogenetics, 21(2), 121-133. Springer, Cham Harting, I, Al-Saady, M, Krägeloh-Mann, I, Bley, A, Hempel, M, Bierhals, T, Karch, S, Moog, U, Bernard, G, Huntsman, R, van Spaendonk, R M L, Vreeburg, M, Rodríguez-Palmero, A, Pujol, A, van der Knaap, M S, Pouwels, P J W & Wolf, N I 2020, ' POLR3A variants with striatal involvement and extrapyramidal movement disorder ', Neurogenetics, vol. 21, no. 2, pp. 121-133 . https://doi.org/10.1007/s10048-019-00602-4 Neurogenetics r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol instname |
| بيانات النشر: | Springer Verlag, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, Pathology, Superior cerebellar peduncle, Choreiform movement, Caudate nucleus, Lipoproteïnes, PHENOTYPE, 0302 clinical medicine, Basal ganglia, Malalties hereditàries, CATALYTIC SUBUNIT, 4H LEUKODYSTROPHY, Genetics (clinical), DIFFUSE HYPOMYELINATION, Dystonia, RECESSIVE MUTATIONS, Movement Disorders, Putamen, Brain, White Matter, medicine.anatomical_structure, Child, Preschool, Original Article, Female, CLINICAL SPECTRUM, Genetic disorders, Brainstem, Hypomyelination, MRI, Adult, medicine.medical_specialty, Lipoproteins, Striatum, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Atrophy, SDG 3 - Good Health and Well-being, Genetics, medicine, Humans, business.industry, POLR3A, Leukodystrophy, Infant, RNA Polymerase III, medicine.disease, POLR3-RELATED LEUKODYSTROPHY, Neostriatum, 030104 developmental biology, Mutation, Inferior cerebellar peduncle, business, 030217 neurology & neurosurgery |
| الوصف: | Biallelic variants in POLR3A cause 4H leukodystrophy, characterized by hypomyelination in combination with cerebellar and pyramidal signs and variable non-neurological manifestations. Basal ganglia are spared in 4H leukodystrophy, and dystonia is not prominent. Three patients with variants in POLR3A, an atypical presentation with dystonia, and MR involvement of putamen and caudate nucleus (striatum) and red nucleus have previously been reported. Genetic, clinical findings and 18 MRI scans from nine patients with homozygous or compound heterozygous POLR3A variants and predominant striatal changes were retrospectively reviewed in order to characterize the striatal variant of POLR3A-associated disease. Prominent extrapyramidal involvement was the predominant clinical sign in all patients. The three youngest children were severely affected with muscle hypotonia, impaired head control, and choreic movements. Presentation of the six older patients was milder. Two brothers diagnosed with juvenile parkinsonism were homozygous for the c.1771-6C > G variant in POLR3A; the other seven either carried c.1771-6C > G (n = 1) or c.1771-7C > G (n = 7) together with another variant (missense, synonymous, or intronic). Striatal T2-hyperintensity and atrophy together with involvement of the superior cerebellar peduncles were characteristic. Additional MRI findings were involvement of dentate nuclei, hila, or peridentate white matter (3, 6, and 4/9), inferior cerebellar peduncles (6/9), red nuclei (2/9), and abnormal myelination of pyramidal and visual tracts (6/9) but no frank hypomyelination. Clinical and MRI findings in patients with a striatal variant of POLR3A-related disease are distinct from 4H leukodystrophy and associated with one of two intronic variants, c.1771-6C > G or c.1771-7C > G, in combination with another POLR3A variant. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1364-6745 1364-6753 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab321e19300b1e13144f312d48ca1bd8 https://doi.org/10.1007/s10048-019-00602-4 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....ab321e19300b1e13144f312d48ca1bd8 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 13646745 13646753 |
|---|