Neuropathologic features of pontocerebellar hypoplasia type 6

Journal of Neuropathology and Experimental Neurology

Volumn 73, Issue 11, 2014, Pages 1009-1025

  Joseph, Jeffrey T ^a   Innes, A Micheil ^b   Smith, Amanda C ^c   Vanstone, Megan R ^c   Schwartzentruber, Jeremy A ^d   Bulman, Dennis E ^c   Majewski, Jacek ^d   Daza, Ray A ^e   Hevner, Robert F ^e,f   Michaud, Jean ^c   Boycott, Kym M ^c  

^a FOOTHILLS HOSPITAL   (Canada)

^b ALBERTA CHILDREN'S HOSPITAL   (Canada)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

PCH6; Pontocerebellar hypoplasia; RARS2; Wholeexome Sequencing

Indexed keywords

ARGININE TRANSFER RNA LIGASE;

ARTICLE; ASTROCYTOSIS; AUTOPSY; BRAIN CORTEX; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD DEVELOPMENT; CLINICAL FEATURE; FEMALE; GENE DISRUPTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; INFANT; MALE; MOLECULAR DIAGNOSIS; NERVE CELL DIFFERENTIATION; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PONTOCEREBELLAR HYPOPLASIA TYPE 6; SEIZURE; SIBLING; WHITE MATTER; BRAIN; DIZYGOTIC TWINS; GENETICS; OLIVOPONTOCEREBELLAR ATROPHY; PATHOLOGY;

BRAIN; FEMALE; HUMANS; INFANT; MALE; OLIVOPONTOCEREBELLAR ATROPHIES; TWINS, DIZYGOTIC;

EID: 84916214302     PISSN: 00223069     EISSN: 15546578     Source Type: Journal    
DOI: 10.1097/NEN.0000000000000123     Document Type: Article

References (32)

1. Hevner RF. Progress on pontocerebellar hypoplasia. Acta Neuropathol 2007;114:401-2
2. Namavar Y, Barth PG, Poll-The BT, et al. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis 2011;6:50
3. Namavar Y, Barth PG, Kasher PR, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain 2011;134:143-56
4. Boycott KM, Vanstone MR, Bulman DE, et al. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013;10:681-91
5. Edvardson S, Shaag A, Kolesnikova O, et al. Deleterious mutation in the mitochondrial arginylYtransfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet 2007;81:857-62
6. Li H, Durbin R. Fast and accurate short read alignment with Burrows- Wheeler transform. Bioinformatics 2009;25:1754-60
7. Li H, Handsaker B, Wysoker A, et al. The sequence alignment/map format and SAMtools. Bioinformatics 2009;25:2078-79
8. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38:e164
9. Englund C, Alvord EC Jr, Folkerth RD, et al. NeuN expression correlates with reduced mitotic index of neoplastic cells in central neurocytomas. Neuropathol Appl Neurobiol 2005;31:429-38
10. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-81
11. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-49
12. Wan J, Yourshaw M, Mamsa H, et al. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet 2012;44:704-8
13. Rankin J, Brown R, Dobyns WB, et al. Pontocerebellar hypoplasia type 6: a British case with PEHO-like features. Am J Med Genet A 2010;152: 2079-84
14. Glamuzina E, Brown R, Hogarth K, et al. Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. J Inherit Metab Dis 2012; 35:459-67
15. Yokota Y, Ghashghaei H, Han C, et al. Radial glial dependent and independent dynamics of interneuronal migration in the developing cerebral cortex. PLoS One 2007;2:e794
16. Larsell O. The development of the cerebellum in man in relation to its comparative anatomy. J Comp Neurol 1947;87:85-129
17. Rakic P, Sidman RL. Histogenesis of cortical layers in human cerebellum, particularly the lamina dissecans. J Comp Neurol 1970;139:473-500
18. Andressen C, Blümcke I, Celio MR. Calcium-binding proteins: selective markers of nerve cells. Cell Tissue Res 1993;271:181-208
19. Gilles FH. Myelination in the neonatal brain. Hum Pathol 1976;7:244-48
20. Murofushi K. Normal development and dysgenesias of the dentate nucleus and inferior olive. Acta Neuropathol 1974;27:317
21. Chi JG, Dooling EC, Gilles FH. Gyral development of the human brain. Ann Neurol 1977;1:86-93
22. Scheper GC, van der Klok T, van Andel RJ, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007;39:534-39
23. Corbin JG, Nery S, Fishell G. Telencephalic cells take a tangent: non-radial migration in the mammalian forebrain. Nat Neurosci 2001;4:1177-82
24. Métin C, Baudoin JP, Raki S, et al. Cell and molecular mechanisms involved in the migration of cortical interneurons. Eur J Neurosci 2006; 23:894-900
25. Calvin K, Li H. RNA-splicing endonuclease structure and function. Cellular and Molecular Life Sciences 2008;65:1176-85
26. Antonellis A, Green ED. The role of aminoacyl-tRNA synthetases in genetic diseases. Annu Rev Genomics Hum Genet 2008:9:87-107
27. Renbaum P, Kellerman E, Jaron R, et al. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet 2009;85:281-89
28. Barth PG, Aronica E, de Vries L, et al. Pontocerebellar hypoplasia type 2: a neuropathological update. Acta Neuropathol 2007;114:373-86
29. Cassandrini D, Biancheri R, Tessa A, et al. Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. Neurology 2010;75: 1459-64
30. Patel MS, Becker LE, Toi A, et al. Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Am J Med Genet A 2006;140:594-603
31. Anderson C, Davies JH, Lamont L, et al. Early pontocerebellar hypoplasia with vanishing testes: a new syndrome? Am J Med Genet A 2011; 155A:667-72
32. Kasher PR, Namavar Y, van Tijn P, et al. Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia. Hum Mol Genet 2011;20:1574-84