Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Yasmin Namavar, Peter G. Barth, Paul R. Kasher, Fred Van Ruissen, Knut Brockmann, Günther Bernert, Karin Writzl, Karen Ventura, Edith Y. Cheng, Donna M. Ferriero, Lina Basel-Vanagaite, Veerle R C Eggens, Ingeborg Krägeloh-Mann, Linda De Meirleir, Mary King, John M. Graham, Arpad Von Moers, Nine Knoers, L. Sztriha, Rudolf Korinthenberg & 3 others William B. Dobyns, Frank Baas, Bwee Tien Poll-The

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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 languageEnglish
Pages (from-to)143-156
Number of pages14
JournalBrain
Volume134
Issue number1
DOIs
Publication statusPublished - Jan 2011

Fingerprint

Mutation
Genes
Atrophy
RNA Splicing
Amino Acyl-tRNA Synthetases
Microcephaly
Pons
Transfer RNA
Neurodegenerative Diseases
Cerebellum
Pontocerebellar Hypoplasia
Phenotype

Keywords

  • neurogenetics
  • neuroimaging
  • pontocerebellar hypoplasia
  • RARS2
  • TSEN

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Namavar, Y., Barth, P. G., Kasher, P. R., Van Ruissen, F., Brockmann, K., Bernert, G., ... Poll-The, B. T. (2011). Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain, 134(1), 143-156. https://doi.org/10.1093/brain/awq287

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. / Namavar, Yasmin; Barth, Peter G.; Kasher, Paul R.; Van Ruissen, Fred; Brockmann, Knut; Bernert, Günther; Writzl, Karin; Ventura, Karen; Cheng, Edith Y.; Ferriero, Donna M.; Basel-Vanagaite, Lina; Eggens, Veerle R C; Krägeloh-Mann, Ingeborg; De Meirleir, Linda; King, Mary; Graham, John M.; Von Moers, Arpad; Knoers, Nine; Sztriha, L.; Korinthenberg, Rudolf; Dobyns, William B.; Baas, Frank; Poll-The, Bwee Tien.

In: Brain, Vol. 134, No. 1, 01.2011, p. 143-156.

Research output: Contribution to journalArticle

Namavar, Y, Barth, PG, Kasher, PR, Van Ruissen, F, Brockmann, K, Bernert, G, Writzl, K, Ventura, K, Cheng, EY, Ferriero, DM, Basel-Vanagaite, L, Eggens, VRC, Krägeloh-Mann, I, De Meirleir, L, King, M, Graham, JM, Von Moers, A, Knoers, N, Sztriha, L, Korinthenberg, R, Dobyns, WB, Baas, F & Poll-The, BT 2011, 'Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia', Brain, vol. 134, no. 1, pp. 143-156. https://doi.org/10.1093/brain/awq287
Namavar Y, Barth PG, Kasher PR, Van Ruissen F, Brockmann K, Bernert G et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011 Jan;134(1):143-156. https://doi.org/10.1093/brain/awq287
Namavar, Yasmin ; Barth, Peter G. ; Kasher, Paul R. ; Van Ruissen, Fred ; Brockmann, Knut ; Bernert, Günther ; Writzl, Karin ; Ventura, Karen ; Cheng, Edith Y. ; Ferriero, Donna M. ; Basel-Vanagaite, Lina ; Eggens, Veerle R C ; Krägeloh-Mann, Ingeborg ; De Meirleir, Linda ; King, Mary ; Graham, John M. ; Von Moers, Arpad ; Knoers, Nine ; Sztriha, L. ; Korinthenberg, Rudolf ; Dobyns, William B. ; Baas, Frank ; Poll-The, Bwee Tien. / Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. In: Brain. 2011 ; Vol. 134, No. 1. pp. 143-156.
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