X-linked nonprogressive congenital cerebellar hypoplasia: Clinical description and mapping to chromosome Xq

Annals of Neurology

Volumn 40, Issue 1, 1996, Pages 75-83

  Illarioshkin, Sergei N ^a,b   Tanaka, Hajime ^a   Markova, Elena D ^b   Nikolskaya, Natalya N ^b   Ivanova Smolenskaya, Irina A ^b   Tsuji, Shoji ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b RESEARCH CENTER OF NEUROLOGY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CEREBELLAR ATAXIA; CEREBELLUM HYPOPLASIA; CHILD; CHROMOSOME XQ; CLINICAL ARTICLE; DYSARTHRIA; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; PEDIGREE; PRIORITY JOURNAL; X CHROMOSOME RECESSIVE DISORDER;

ADOLESCENT; ADULT; ALLELES; CEREBELLAR ATAXIA; CEREBELLUM; CHILD; CHROMOSOMES, HUMAN, PAIR 11; DYSARTHRIA; HAPLOTYPES; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; OPHTHALMOPLEGIA; PEDIGREE; POLYMERASE CHAIN REACTION; X CHROMOSOME;

EID: 0029937013     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410400113     Document Type: Article

References (33)

1. Harding AE. The hereditary ataxias and related disorders. Edinburgh: Churchill Livingstone, 1984
2. Rosenberg RN. Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology 1995;45:1-5
3. Harding AE. Neurogenetics update. J Neurol Sci 1994;126: 90-93
4. Chamberlain S, Koenig M, Richter A, et al. Molecular analysis of the Friedreich's ataxia locus. Adv Neurol 1993;61:193-204
5. Bruyn GW. Hereditary congenital cerebellar atrophy. In: de Yong JMBV, ed. Handbook of clinical neurology, vol. 60: hereditary neuropathies and spinocerebellar atrophies. New York: Elsevier Science, 1991:285-297
6. Ingram TTS. Congenital ataxic syndromes in cerebral palsy. Acta Paediatr Scand 1962;51:209-221
7. Gustavson KH, Hagberg B, Sanner G. Identical syndromes of cerebral palsy in the same family. Acta Paediatr Scand 1969; 58:330-340
8. Sanner G, Hagberg B. 188 cases of non-progressive ataxic syndromes in childhood. Neuropadiatrie 1974;5:224-235
9. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215
10. Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Généthon human genetic linkage map. Nature Genet 1994;7:246-339
11. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984;36: 460-465
12. Kvistad PH, Dahl A, Skre H. Autosomal recessive non-progressive ataxia with an early childhood debut. Acta Neurol Scand 1985;71:295-302
13. Malamud N, Cohen P. Unusual form of cerebellar ataxia with sex-linked inheritance. Neurology 1958;8:261-266
14. Arts WFM, Loonen MCB, Sengers RCA, Slooff JL. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol 1993;33:535-539
15. Blumel J, Evans EB, Eggers GWN. Hereditary cerebral palsy. A preliminary report. J Pediatr 1957;50:454-457
16. Paine RS. Familial biochemically determined mental retardation with special reference to aminoaciduria. N Engl J Med 1960;262:658-665
17. Seemanová E, Lesny I, Hyánek J, et al. X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"? Humangenetik 1973;20:113-117
18. Subrahmanyam G, Tripathi AM, Agarwal KN. Familial ataxic diplegia. Acta Paediatr Scand 1974;63:472-474
19. Apak S, Yüksel M, Özmen M, et al. Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia. Am J Med Genet 1989;34:155-158
20. Young ID, Moore JR, Tripp JH. Sex-linked recessive congenital ataxia. J Neurol Neurosurg Psychiatry 1987;50:1230-1232
21. Bruyn GW, de Yong JMBV. X-linked recessive ataxia. In: de Yong JMBV, ed. Handbook of clinical neurology, vol 60: hereditary neuropathies and spinocerebellar atrophies. New York: Elsevier Science, 1991:635-642
22. Riccardi VM, Marcus ES. Congenital hydrocephalus and cerebellar agenesis. Clin Genet 1978;13:443-447
23. Renier WO, Gabreels FJM, Hustinx TWJ, et al. Cerebellar hypoplasia, communicating hydrocephalus and mental retardation in two brothers and a maternal uncle. Brain Dev 1983; 5:41-45
24. Shokeir MHK. X-linked cerebellar ataxia. Clin Genet 1970;1: 225-231
25. Spira PJ, McLeod JG, Evans WA. A spinocerebellar degeneration with X-linked inheritance. Brain 1979;102:27-41
26. Farlow MR, DeMyer W, Dlouhy SR, Hodes ME. X-linked recessive inheritance of ataxia and adult-onset dementia: clinical features and preliminary linkage analysis. Neurology 1987; 37:602-607
27. McKusick VA. Mendelian inheritance in man: a catalog of human genes and genetic disorders. 11th ed. Baltimore: The Johns Hopkins University Press, 1994
28. Mattei MG, Alliel PM, Dautigny A, et al. The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome. Hum Genet 1986;72:352-353
29. Doll R, Natowicz MR, Schiffmann R, Smith FI. Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet 1992;51:161-169
30. Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genet 1994;6: 257-261
31. Pagon RA, Bird TD, Detter JC, Pierce I. Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. J Med Genet 1985;22:267-273
32. Raskind WH, Wijsman E, Pagon RA, et al. X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. Am J Hum Genet 1991;48:335-341
33. Collins FS. Positional cloning moves from perditional to traditional. Nature Genet 1995;9:347-350