X-linked spastic paraplegia
1991; Wiley; Volume: 83; Issue: 6 Linguagem: Inglês
10.1111/j.1600-0404.1991.tb03972.x
ISSN1600-0404
AutoresAyfer Ülkü, Hatice Karasoy, Altınay Göksel Karatepe, Figen Gökçay,
Tópico(s)Neurogenetic and Muscular Disorders Research
ResumoActa Neurologica ScandinavicaVolume 83, Issue 6 p. 403-406 X-linked spastic paraplegia A. Ülkü, Corresponding Author A. Ülkü Aegean University, Pediatric Neurology Unit, Izmir, TurkeyAyfer Ülkü, Pediatric Neurology Unit, Department of Neurology, Aegean University, Bornova 35100 lzmir, TurkeySearch for more papers by this authorH. Karasoy, H. Karasoy Aegean University, Pediatric Neurology Unit, Izmir, TurkeySearch for more papers by this authorA. Karatepe, A. Karatepe Aegean University, Pediatric Neurology Unit, Izmir, TurkeySearch for more papers by this authorF. Gökçay, F. Gökçay Aegean University, Pediatric Neurology Unit, Izmir, TurkeySearch for more papers by this author A. Ülkü, Corresponding Author A. Ülkü Aegean University, Pediatric Neurology Unit, Izmir, TurkeyAyfer Ülkü, Pediatric Neurology Unit, Department of Neurology, Aegean University, Bornova 35100 lzmir, TurkeySearch for more papers by this authorH. Karasoy, H. Karasoy Aegean University, Pediatric Neurology Unit, Izmir, TurkeySearch for more papers by this authorA. Karatepe, A. Karatepe Aegean University, Pediatric Neurology Unit, Izmir, TurkeySearch for more papers by this authorF. Gökçay, F. Gökçay Aegean University, Pediatric Neurology Unit, Izmir, TurkeySearch for more papers by this author First published: June 1991 https://doi.org/10.1111/j.1600-0404.1991.tb03972.xCitations: 3AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract This paper describes a family with 10 males affected by x-linked spastic paraplegia. X-linked inheritance is rarely encountered in pure and complicated forms of hereditary spastic paraplegia. The disease was characterized by hyperreflexia, progressive spastic gait disorder, extensor plantar responses and mental retardation in all of the affected members of the family we studied. In addition to these symptoms, the older patients had cerebellar findings, severe disability and contractures. This is the 13th family manifesting x-linked spastic paraplegia reported in the literature. References 1 Sutherland JM. Familial spastic paraplegia. In: PS Winken And GW Bruyn. eds. Handbook of Clinical Neurology. Amsterdam : North Holland Pub Comp. ( vol 22), 1975: 421– 431. 2 Harding AE. Classification of hereditary ataxias and paraplegias. Lancet 1983: i: 1151– 1155. 3 McKusick V. Spastic paraplegia. In: Mendelian inheritance in man. 5th ed. Maryland : John Hopkins Univ. Press, 1978: 798– 799. 4 Kenwrick S, Ionasescu V, Ionas Escu G et al. Linkage studies of x-linked recessive spastic paraplegia using DNA probes. Hum Genet 1986: 73: 264– 266. 5 Baar HS, Gabriel AM. Sex-linked spastic paraplegia. Am J Ment Def 1966: 71: 13– 18. 6 Thurmon TF, Walker BA, Scott CI, Abbott MH. Two kindreds with a sex-linked recessive form of spastic paraplegia. Birth Defects 1971: 7: 219– 221. 7 Raggio JF, Thurmon TF, Anderson EE. X-linked spastic paraplegia. J Louisiana State Med Society 1973: 125: 4– 6. 8 Zats M, Penha-Sarrano C, Otto PA. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. J Med Genet 1976: 13: 217– 222. 9 Young ID, Pye IF, Moore JR. Manifesting heterozygosity in sex-linked spastic paraplegia J Neurol Neurosurg Psychiatr 1984: 47: 311– 313. 10 Keppen LD, Leppert MF, O'Connell P et al. Etiological heterogeneity in x-linked spastic paraplegia. Am J Hum Genet 1987: 41: 933– 943. 11 Dennis SC, Green NE. Hereditary spastic paraplegia. J Pediatr Orthop 1988: 8: 413– 417. 12 Goldblatt J, Ballo R, Sachs B, Moosa A. X-linked spastic paraplegia: evidence for homogeneity with variable phenotype. Clin Genet 1989: 39: 116– 120. 13 Pratt RTC. X-linked familial spastic paraplegia. In: The genetics of neurological disorders. London : Oxford Univ. Press. 1967: 48. 14 Behan WMH, Maia M. Strümpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatr 1974: 37: 8– 20. 15 Thurmon TF, Walker BA. Two distinct types of autosomal dominant spastic paraplegia. Birth Defects 1971: 7: 216– 218. 16 Harding AE. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatr 1981: 44: 871– 883. 17 Boustany RMN, Fleishnik E, Alper CA et al. The autosomal dominant form of "pure" familial spastic paraplegia. Neurology 1987: 37: 910– 915. 18 Costeff H, Gadoth N, Apter N, Prialnic M, Savjr H. A familial syndrome of infantile optic atrophy, movement disorders and spastic paraplegia. Neurology 1989: 39: 595– 597. 19 Harding AE. Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friendreich's ataxia. J Neurol Neurosurg Psychiatr 1981: 44: 503– 508. 20 Blumel J, Evans EB, Eggers WN. Hereditary cerebral palsy. J Pediatr 1957: 50: 454– 458. Citing Literature Volume83, Issue6June 1991Pages 403-406 ReferencesRelatedInformation
Referência(s)