Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Yasmin Namavar; P.g. Barth; Paul Kasher; Fred Van Ruiiiissen; Knut Brockmann; Günther Bernert; Karin Wriiiitzlll; Edith Cheng; Donna Ferriiiiero; Lina Basellll-Vanagaiiiite; Veerle Eggens; Ingeborg Krägelllloh-Mann; Linda De Meirleir; Mary King; John Graham Jr; Arpad Von Moers; Nine Knoers; Laszlo Sztriha; Rudolf Korinthenberg; William Dobyns; Frank Baas; Bwee Tien Poll-The

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Yasmin Namavar, P.g. Barth, Paul Kasher, Fred Van Ruiiiissen, Knut Brockmann, Günther Bernert, Karin Wriiiitzlll, Edith Cheng, Donna Ferriiiiero, Lina Basellll-Vanagaiiiite, Veerle Eggens, Ingeborg Krägelllloh-Mann, Linda De Meirleir, Mary King, John Graham Jr, Arpad Von Moers, Nine Knoers, Laszlo Sztriha, Rudolf Korinthenberg, William DobynsFrank Baas, Bwee Tien Poll-The

Pediatrics

Research output: Contribution to journal › Article › peer-review

191 Citations (Scopus)

Abstract

Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ventriculomegaly and microcephaly. Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6. We studied a cohort of 169 patients from 141 families for mutations in these genes, of whom 106 patients tested positive for mutations in one of the TSEN genes or the RARS2 gene. In order to delineate the neuroradiological and clinical phenotype of patients with mutations in these genes, we compared this group with 63 patients suspected of pontocerebellar hypoplasia who were negative on mutation analysis. We found a strong correlation (P?

Original language	English
Pages (from-to)	143-156
Journal	Brain
Volume	134
Publication status	Published - 15 Oct 2010

Keywords

pontocerebellar hypoplasia
TSEN54
TSEN2
RARS2

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Namavar, Y., Barth, P. G., Kasher, P., Van Ruiiiissen, F., Brockmann, K., Bernert, G., Wriiiitzlll, K., Cheng, E., Ferriiiiero, D., Basellll-Vanagaiiiite, L., Eggens, V., Krägelllloh-Mann, I., De Meirleir, L., King, M., Graham Jr, J., Von Moers, A., Knoers, N., Sztriha, L., Korinthenberg, R., ... Poll-The, B. T. (2010). Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain, 134, 143-156.

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title = "Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.",

abstract = "Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ventriculomegaly and microcephaly. Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6. We studied a cohort of 169 patients from 141 families for mutations in these genes, of whom 106 patients tested positive for mutations in one of the TSEN genes or the RARS2 gene. In order to delineate the neuroradiological and clinical phenotype of patients with mutations in these genes, we compared this group with 63 patients suspected of pontocerebellar hypoplasia who were negative on mutation analysis. We found a strong correlation (P?",

keywords = "pontocerebellar hypoplasia, TSEN54, TSEN2, RARS2",

author = "Yasmin Namavar and P.g. Barth and Paul Kasher and {Van Ruiiiissen}, Fred and Knut Brockmann and G{\"u}nther Bernert and Karin Wriiiitzlll and Edith Cheng and Donna Ferriiiiero and Lina Basellll-Vanagaiiiite and Veerle Eggens and Ingeborg Kr{\"a}gelllloh-Mann and {De Meirleir}, Linda and Mary King and {Graham Jr}, John and {Von Moers}, Arpad and Nine Knoers and Laszlo Sztriha and Rudolf Korinthenberg and William Dobyns and Frank Baas and Poll-The, {Bwee Tien}",

year = "2010",

month = oct,

day = "15",

language = "English",

volume = "134",

pages = "143--156",

journal = "Brain",

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Namavar, Y, Barth, PG, Kasher, P, Van Ruiiiissen, F, Brockmann, K, Bernert, G, Wriiiitzlll, K, Cheng, E, Ferriiiiero, D, Basellll-Vanagaiiiite, L, Eggens, V, Krägelllloh-Mann, I, De Meirleir, L, King, M, Graham Jr, J, Von Moers, A, Knoers, N, Sztriha, L, Korinthenberg, R, Dobyns, W, Baas, F & Poll-The, BT 2010, 'Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.', Brain, vol. 134, pp. 143-156.

TY - JOUR

T1 - Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

AU - Namavar, Yasmin

AU - Barth, P.g.

AU - Kasher, Paul

AU - Van Ruiiiissen, Fred

AU - Brockmann, Knut

AU - Bernert, Günther

AU - Wriiiitzlll, Karin

AU - Cheng, Edith

AU - Ferriiiiero, Donna

AU - Basellll-Vanagaiiiite, Lina

AU - Eggens, Veerle

AU - Krägelllloh-Mann, Ingeborg

AU - De Meirleir, Linda

AU - King, Mary

AU - Graham Jr, John

AU - Von Moers, Arpad

AU - Knoers, Nine

AU - Sztriha, Laszlo

AU - Korinthenberg, Rudolf

AU - Dobyns, William

AU - Baas, Frank

AU - Poll-The, Bwee Tien

PY - 2010/10/15

Y1 - 2010/10/15

N2 - Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ventriculomegaly and microcephaly. Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6. We studied a cohort of 169 patients from 141 families for mutations in these genes, of whom 106 patients tested positive for mutations in one of the TSEN genes or the RARS2 gene. In order to delineate the neuroradiological and clinical phenotype of patients with mutations in these genes, we compared this group with 63 patients suspected of pontocerebellar hypoplasia who were negative on mutation analysis. We found a strong correlation (P?

AB - Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ventriculomegaly and microcephaly. Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6. We studied a cohort of 169 patients from 141 families for mutations in these genes, of whom 106 patients tested positive for mutations in one of the TSEN genes or the RARS2 gene. In order to delineate the neuroradiological and clinical phenotype of patients with mutations in these genes, we compared this group with 63 patients suspected of pontocerebellar hypoplasia who were negative on mutation analysis. We found a strong correlation (P?

KW - pontocerebellar hypoplasia

KW - TSEN54

KW - TSEN2

KW - RARS2

M3 - Article

SN - 0006-8950

VL - 134

SP - 143

EP - 156

JO - Brain

JF - Brain

ER -

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Abstract

Keywords

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