Abstract
Dentato-rubro-pallido-luysian atrophy (DRPLA) is a rare familial disorder comprising degeneration of the cerebellar efferent system and of the pallido-luysian tracts. Ataxic choreoathetoid, pseudo-Huntington, and myoclonic epilepsy forms of this syndrome have been described. The disorder begins between 7 and 20 years of age.
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15 Other Heredodegenerative Diseases
Lowe JS, Leigh N (2002) Disorders of movement and system degenerations. In: Graham DI, Lantos PL (eds) Greenfields’ neuropathology, 7th edn, Vol 1. Arnold, London, pp 361–370.
Delgado-Escueta AV, Serratosa JM, Liu-A, Weissbecker K, Medina MT, Gee M, Treiman LJ, Sparkes RS (1994) Progress in mapping human epilepsy genes. Epilepsia 25(Suppl 1):S29–S40.
Ganesh S, Agarwala KL, Ueda K, Akagi T, Shoda K, Usui T, Hashikawa T, Osada H, Delgado-Escueta AV, Yamakawa K (2000) Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes. Hum Mol Genet 9:2251–2261.
Honavar M, Meldrum BS (2001) Epilepsy. In: Graham DI, Lantos PL (eds) Greenfields’ neuropathology, 7th edn, Vol 1. Arnold, London, pp 899–942.
Yokoi S, Austin J, Witmer F, Sakai M (1968) Studies in myoclonus epilepsy (Lafora body form). Arch Neurol 19:15–33.
Rett A (1977) Cerebral atrophy associated with hyperammonemia. In: Vinken PW, Bruyn GW (eds) Handbook of clinical neurology, Vol 29. North Holland, Amsterdam, pp 205–225.
Amir RE, Van den Veyver I, Wan M, Tran CQ, Franke U, Zoghbi HY (1999) Rett’s syndrome is caused by a mutation in X-linked MECP2 encoding methyl-CpG-binding protein. Nat Genet 23:185–188.
Lasalle JM, Goldstine J, Balmer D, Greco CH (2001) Quantitative localization of heterogeneous methyl-CpG-binding protein: 2(MeCP2)expression phenotypes in normal and Rett syndrome brain by laser and scanning cytometry. Hum Mol Genet 10:1729–1740.
Kerr A, Engerström IW (2001) The clinical background to the Rett disorder. In Kerr A, Engerström IW (eds) Rett disorder and the developing brain. Oxford University Press, Oxford pp 1–26
Ronnet GV, Leopold D, Cai X, Hoffbuhr KC, Moses L, Hoffman EP, Naidu S (2003) Olfactory biopsies demonstrate a defect in neuronal development in Rett syndrome. Ann Neurol 54:206–218.
Esiri MM, Crow TJ (2002) Neuropathology of psychiatric disorders In: Graham DI, Lantos PL (eds) Greenfields’ neuropathology, 7th edn, Vol 1. Arnold, London, pp 455–457.
Endo A, Motonaga K, Arahata K, Yamada T, Takashima S (2000) Developmental expression of myotonic dystrophy protein kinase in brain and its relevance to clinical phenotype. Acta Neuropathol (Berl) 100:513–520.
Kuo HC, Hsiao KM, Chen CJ, Hsieh YC, Huang CC (2005) Brain magnetic resonance image changes in a family with congenital and classic myotonic dystrophy. Brain Dev 27:291–296.
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(2007). Other Heredodegenerative Diseases. In: Pediatric Neuropathology. Springer, Tokyo. https://doi.org/10.1007/978-4-431-49898-8_15
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DOI: https://doi.org/10.1007/978-4-431-49898-8_15
Publisher Name: Springer, Tokyo
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