By Flora Tassone, Deborah A. Hall
This publication should still function a source for pros in all fields concerning analysis, administration, and counseling of sufferers with FXTAS, FXPOI and their households, in addition to proposing the molecular foundation for illness that can bring about the id of recent markers to foretell illness hazard and at last result in aim treatments.
The booklet will current info on all points of FXTAS, FXPOI and different premutation issues together with medical positive factors and present supportive administration, radiological, mental, and pathological findings, genotype-phenotype relationships, animal versions and simple molecular mechanisms. Genetic counseling matters also are discussed.
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Extra info for FXTAS, FXPOI, and Other Premutation Disorders
Example text
Mailick Waisman Center, University of Wisconsin-Madison, Madison, WI, USA © Springer International Publishing Switzerland 2016 F. A. A. Hall and M. Mailick alleles in various movement disorder populations. The prevalence rate of premutation alleles has been studied in both the general population and selected neurological populations. Other epidemiological features of the premutation expansion, such as incidence or mortality ratios, have not yet been studied or defined. Population studies investigating FMR1 expansions were initiated after discovery of the gene mutation for fragile X syndrome.
J Med Genet 43(10):804–809 Kamm C, Healy DG, Quinn NP, Wüllner U, Moller JC, Schols L, Geser F, Burk K, Børglum AD, Pellecchia MT, Tolosa E, del Sorbo F, Nilsson C, Bandmann O, Sharma M, Mayer P, Gasteiger M, Haworth A, Ozawa T, Lees AJ, Short J, Giunti P, Holinski-Feder E, Illig T, Wichmann HE, Wenning GK, Wood NW, Gasser T, European Multiple System Atrophy Study Group (2005) The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group.
Few people had heard of FXTAS, and many confused it with Fragile X syndrome (FXS), which had been identified in 1943 by Martin and Bell, and which was at first called the Martin–Bell syndrome. The fragile site on the long arm of the X chromosome was discovered by Lubs in 1969, and the FMR1 gene itself was later located by Verkerk et al. (1991). While an association between a defect on the X and intellectual disability had been known since the paper by Martin and Bell, no association with a movement disorder had been noticed in families with a child who had FXS.