PortalPublikationenPOLR3A variants with striatal involvement and extrapyramidal...

POLR3A variants with striatal involvement and extrapyramidal movement disorder

Standard

POLR3A variants with striatal involvement and extrapyramidal movement disorder. / Harting, Inga; Al-Saady, Murtadha; Krägeloh-Mann, Ingeborg; Bley, Annette; Hempel, Maja; Bierhals, Tatjana; Karch, Stephanie; Moog, Ute; Bernard, Geneviève; Huntsman, Richard; van Spaendonk, Rosalina M L; Vreeburg, Maaike; Rodríguez-Palmero, Agustí; Pujol, Aurora; van der Knaap, Marjo S; Pouwels, Petra J W; Wolf, Nicole I.

in: NEUROGENETICS, Jahrgang 21, Nr. 2, 04.2020, S. 121-133.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Harting, I, Al-Saady, M, Krägeloh-Mann, I, Bley, A, Hempel, M, Bierhals, T, Karch, S, Moog, U, Bernard, G, Huntsman, R, van Spaendonk, RML, Vreeburg, M, Rodríguez-Palmero, A, Pujol, A, van der Knaap, MS, Pouwels, PJW & Wolf, NI 2020, 'POLR3A variants with striatal involvement and extrapyramidal movement disorder', NEUROGENETICS, Jg. 21, Nr. 2, S. 121-133. https://doi.org/10.1007/s10048-019-00602-4

APA

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, 21(2), 121-133. https://doi.org/10.1007/s10048-019-00602-4

Vancouver

Harting I, Al-Saady M, Krägeloh-Mann I, Bley A, Hempel M, Bierhals T et al. POLR3A variants with striatal involvement and extrapyramidal movement disorder. NEUROGENETICS. 2020 Apr;21(2):121-133. https://doi.org/10.1007/s10048-019-00602-4

Bibtex

@article{d6af9055063a4a2cbeaf5e22bcf40ae0,
title = "POLR3A variants with striatal involvement and extrapyramidal movement disorder",
abstract = "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.",
author = "Inga Harting and Murtadha Al-Saady and Ingeborg Kr{\"a}geloh-Mann and Annette Bley and Maja Hempel and Tatjana Bierhals and Stephanie Karch and Ute Moog and Genevi{\`e}ve Bernard and Richard Huntsman and {van Spaendonk}, {Rosalina M L} and Maaike Vreeburg and Agust{\'i} Rodr{\'i}guez-Palmero and Aurora Pujol and {van der Knaap}, {Marjo S} and Pouwels, {Petra J W} and Wolf, {Nicole I}",
year = "2020",
month = apr,
doi = "10.1007/s10048-019-00602-4",
language = "English",
volume = "21",
pages = "121--133",
journal = "NEUROGENETICS",
issn = "1364-6745",
publisher = "Springer",
number = "2",

}

RIS

TY - JOUR

T1 - POLR3A variants with striatal involvement and extrapyramidal movement disorder

AU - Harting, Inga

AU - Al-Saady, Murtadha

AU - Krägeloh-Mann, Ingeborg

AU - Bley, Annette

AU - Hempel, Maja

AU - Bierhals, Tatjana

AU - Karch, Stephanie

AU - Moog, Ute

AU - Bernard, Geneviève

AU - Huntsman, Richard

AU - van Spaendonk, Rosalina M L

AU - Vreeburg, Maaike

AU - Rodríguez-Palmero, Agustí

AU - Pujol, Aurora

AU - van der Knaap, Marjo S

AU - Pouwels, Petra J W

AU - Wolf, Nicole I

PY - 2020/4

Y1 - 2020/4

N2 - 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.

AB - 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.

U2 - 10.1007/s10048-019-00602-4

DO - 10.1007/s10048-019-00602-4

M3 - SCORING: Journal article

C2 - 31940116

VL - 21

SP - 121

EP - 133

JO - NEUROGENETICS

JF - NEUROGENETICS

SN - 1364-6745

IS - 2

ER -