A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21

Neurology

Volumn 60, Issue 10, 2003, Pages 1664-1667

  Rajab, A ^f   Mochida, G H ^a,b   Hill, A ^a   Ganesh, V ^a   Bodell, A ^a   Riaz, A ^f   Grant, P E ^b   Shugart, Y Y ^c,d   Walsh, Christopher A ^a,e  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

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

^d JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRACHYCEPHALY; BRAIN STEM; CASE REPORT; CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CEREBELLUM; CHILD; CHROMOSOME 7Q; CHROMOSOME MAP; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL DISORDER; DYSKINESIA; FAMILY; FEMALE; GENE LOCUS; GENETIC LINKAGE; HUMAN; HUMAN CELL; HYPERREFLEXIA; HYPOPLASIA; LINKAGE ANALYSIS; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; OMAN; OPTIC NERVE ATROPHY; PEDIGREE; PONTOCEREBELLAR HYPOPLASIA; PRIORITY JOURNAL; SEIZURE; SHORT STATURE;

EID: 0038137184     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000068548.58498.41     Document Type: Article

References (21)

1. Norman RM, Urich H. Cerebellar hypoplasia associated with systemic degeneration in early life. J Neurol Neurosurg Psychiatry 1958;21:159-166.
2. Peiffer J, Peiffer R. Hypoplasia ponto-neocerebellaris. J Neurol 1977; 215:241-251.
3. Gadisseux JF, Rodriguez J, Lyon G. Pontoneocerebellar hypoplasia - a probable consequence of prenatal destruction of the pontine nuclei and a possible role of phenytoin intoxication. Clin Neuropathol 1984;3:160-167.
4. Kawagoe T, Jacob H. Neocerebellar hypoplasia with systemic combined olivo-ponto-dentatal degeneration in a 9-day-old baby: contribution to the problem of relations between malformation and systemic degeneration in early life. Clin Neuropathol 1986;5:203-208.
5. Harding BN, Dunger DB, Grant DB, Erdohazi M. Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities. J Neurol Neurosurg Psychiatry 1988;51:385-390.
6. Barth PG, Vrensen GF, Uylings HB, Oorthuys JW, Stam FC. Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset. J Neurol Sci 1990;97:25-42.
7. Pittella JE, Nogueira AM. Pontoneocerebellar hypoplasia: report of a case in a newborn and review of the literature. Clin Neuropathol 1990; 9:33-38.
8. Barth PG. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 1993;15: 411-422.
9. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996;58:1347-1363.
10. Kong A, Gudbjartsson DF, Sainz J, et al. A high-resolution recombination map of the human genome. Nat Genet 2002;31:241-247.
11. Gudbjartsson DF, Jonasson K, Frigge ML, Kong A. Allegro, a new computer program for multipoint linkage analysis. Nat Genet 2000;25: 12-13.
12. Barth PG, Blennow G, Lenard HG, et al. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. Neurology 1995;45:311-317.
13. Salonen R, Somer M, Haltia M, Lorentz M, Norio R. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Genet 1991;39:287-293.
14. Somer M. Diagnostic criteria and genetics of the PEHO syndrome. J Med Genet 1993;30:932-936.
15. Somer M, Salonen O, Pihko H, Norio R. PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings. AJNR Am J Neuroradiol 1993;14:861-867.
16. Fujimoto S, Yokochi K, Nakano M, Wada Y. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings. Neuropediatrics 1995;26:270-272.
17. Megarbane A, Delague V, Ruchoux MM, et al. New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. Am J Med Genet 2001;101:135-141.
18. Delague V, Bareil C, Bouvagnet P, et al. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family. Neurogenetics 2002;4:23-27.
19. Zelnik N, Dobyns WB, Forem SL, Kolodny EH. Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology 1996;38:684-687.
20. Wu YQ, Lin X, Liu CM, Jamrich M, Shaffer LG. Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily. Mol Genet Metab 2001;72:343-350.
21. Wang YK, Samos CH, Peoples R, Perez-Jurado LA, Nusse R, Francke U. A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. Hum Mol Genet 1997;6:465-472.