Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: A new disease?

Cerebellum

Volumn 13, Issue 1, 2014, Pages 79-88

  Poretti, Andrea ^a,b   Häusler, Martin ^c   Von Moers, Arpad ^d   Baumgartner, Bastian ^e   Zerres, Klaus ^c   Klein, Andrea ^a   Aiello, Chiara ^f   Moro, Francesca ^g   Zanni, Ginevra ^f   Santorelli, Filippo M ^g   Huisman, Thierry A G M ^b   Weis, Joachim ^h   Valente, Enza Maria ^i,j   Bertini, Enrico ^f   Boltshauser, Eugen ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^d DRK KLINIKEN BERLIN WESTEND   (Germany)

^e Pediatric Neurology Children's Hospital   (Germany)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^h RWTH AACHEN UNIVERSITY   (Germany)

ⁱ CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^j UNIVERSITY OF SALERNO   (Italy)

more..

Author keywords

Cerebellar cysts; Cerebellum; Congenital muscular dystrophy; Dystroglycanopathy; Neuroimaging

Indexed keywords

CREATINE KINASE;

ADOLESCENT; APRAXIA; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; B3GALNT2 GENE; CEREBELLAR DYSPLASIA; CEREBELLUM CYST; CEREBELLUM DISEASE; CEREBELLUM VERMIS; CHILD; CLINICAL ARTICLE; CYST; DYSPLASIA; DYSTROGLYCANOPATHY; FEMALE; FKRP GENE; FKTN GENE; GENE; GENE SEQUENCE; GENOTYPE; GPR56 GENE; HUMAN; INTELLECTUAL IMPAIRMENT; ISPD GENE; LANGUAGE DISABILITY; LARGE GENE; MALE; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; MYOPIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OCULAR MOTOR APRAXIA; PHENOTYPE; POMGNT1 GENE; POMT1 GENE; POMT2 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; APRAXIAS; ATAXIA; CEREBELLAR DISEASES; CEREBELLUM; CHILD; CHILD, PRESCHOOL; CYSTS; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MYOPIA; OCULAR MOTILITY DISORDERS; RETROSPECTIVE STUDIES; SYNDROME;

EID: 84896488858     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-013-0521-8     Document Type: Article

References (41)

1. Poretti A, Klein A, Boltshauser E. Cerebellar cysts and neuroimaging in congenital muscular dystrophies. In: Boltshauser E, Schmahmann JD, editors. Cerebellar disorders in children. London: Mac Keith Press; 2012. p. 177-83.
2. Clement E, Mercuri E, Godfrey C, et al. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol. 2008;64:573-82.
3. Godfrey C, Clement E, Mein R, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007;130:2725-35. (Pubitemid 47511718)
4. Mercuri E, Muntoni F. The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol. 2012;72:9-17.
5. Mercuri E, Messina S, Bruno C, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009;72:1802-9.
6. Devisme L, Bouchet C, Gonzales M, et al. Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain. 2012;135:469-82.
7. Brockington M, Yuva Y, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 2001;10:2851-9. (Pubitemid 34030916)
8. Roscioli T, Kamsteeg EJ, Buysse K, et al. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nat Genet. 2012;44:581-5.
9. Willer T, Lee H, Lommel M, et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012;44:575-80.
10. Manzini MC, Tambunan DE, Hill RS, et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012;91:541-7.
11. Jae LT, Raaben M, Riemersma M, et al. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science. 2013;340:479-83.
12. Bahi-Buisson N, Poirier K, Boddaert N, et al. GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain. 2010;133:3194-209.
13. Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 2008;146A:2871-8.
14. Steffensen TS, Gilbert-Barness E, Lacson A, Margo CE. Cerebellar migration defects in Aicardi syndrome: an extension of the neuropathological spectrum. Fetal Pediatr Pathol. 2009;28:24-38.
15. 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.
16. Doherty D, Millen KJ, Barkovich AJ. Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. Lancet Neurol. 2013;12:381-93.
17. Shevell M. Global developmental delay and mental retardation or intellectual disability: conceptualization, evaluation, and etiology. Pediatr Clin N Am. 2008;55:1071-84.
18. Boltshauser E, Poretti A. Nonprogressive congenital ataxia. In: Boltshauser E, Schmahmann JD, editors. Cerebellar disorders in children. London: Mac Keith Press; 2012. p. 135-9.
19. Poretti A, Boltshauser E. Congenital ataxia (Table 1). In: Boltshauser E, Schmahmann JD, editors. Cerebellar disorders in children. London: Mac Keith Press; 2012. p. 399-400.
20. Poretti A, Boltshauser E. Ataxia and ocular motor apraxia (Table 7). In: Boltshauser E, Schmahmann JD, editors. Cerebellar disorders in children. London: Mac Keith Press; 2012. p. 406.
21. Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 2013;12:894-905.
22. Kondo A, Saito Y, Floricel F, Maegaki Y, Ohno K. Congenital ocular motor apraxia: clinical and neuroradiological findings, and long-term intellectual prognosis. Brain Dev. 2007;29:431-8. (Pubitemid 46755538)
23. Sargent MA, Poskitt KJ, Jan JE. Congenital ocular motor apraxia: imaging findings. AJNR Am J Neuroradiol. 1997;18:1915-22. (Pubitemid 30413735)
24. Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 2011;32:1459-63.
25. Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med. 2012;366:636-46.
26. Cirak S, Foley AR, Herrmann R, et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain. 2013;136:269-81.
27. Quattrocchi CC, Zanni G, Napolitano A, et al. Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. Neurogenetics. 2013;14:77-83.
28. Louhichi N, Triki C, Quijano-Roy S, et al. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Neurogenetics. 2004;5:27-34. (Pubitemid 38297470)
29. Topaloglu H, Brockington M, Yuva Y, et al. FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology. 2003;60:988-92. (Pubitemid 36348933)
30. Mercuri E, Topaloglu H, Brockington M, et al. Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol. 2006;63:251-7. (Pubitemid 43261737)
31. Yis U, Uyanik G, Heck PB, et al. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. Neuromuscul Disord. 2011;21:20-30.
32. Aida N, Yagishita A, Takada K, Katsumata Y. Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. AJNR Am J Neuroradiol. 1994;15:1755-9. (Pubitemid 24311429)
33. Aida N, Tamagawa K, Takada K, et al. Brain MR in Fukuyama congenital muscular dystrophy. AJNR Am J Neuroradiol. 1996;17:605-13. (Pubitemid 126497763)
34. Messina S, Tortorella G, Concolino D, et al. Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. Neurology. 2009;73:1599-601.
35. Barkovich AJ. Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 1998;19:1389-96. (Pubitemid 30431026)
36. Lefeber DJ, Schonberger J, Morava E, et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet. 2009;85:76-86.
37. Barone R, Aiello C, Race V, et al. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol. 2012;72:550-8.
38. Radmanesh F, Caglayan AO, Silhavy JL, et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet. 2013;92:468-74.
39. Stevens E, Carss KJ, Cirak S, et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. Am J Hum Genet. 2013;92:354-65.
40. Buysse K, Riemersma M, Powell G, et al. Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet. 2013;22:1746-54.
41. Carss KJ, Stevens E, Foley AR, et al. Mutations in GDP-mannose pyrophosphorylase b cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan. Am J Hum Genet. 2013;93:29-41.