Michele Rusin

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The 5' untranslated region of the fragile X mental retardation gene, FMR1, contains a polymorphic CGG repeat. Expansions of this repeat are associated with a spectrum of disorders. Full mutation alleles, repeats >or= 200, are associated with fragile X syndrome. Premutation alleles, repeats of approximately 55-199, are associated with a tremor-ataxia(More)
A CGG repeat sequence located in the 5' untranslated region of the FMR1 gene is polymorphic with respect to size and stability of the repeat during parent-offspring transmission. When expanded to over 200 repeats, the gene is hypermethylated and silenced, leading to fragile X syndrome (FXS). Recently, alleles with large unmethylated repeat tracts(More)
The fragile X disorder spectrum, due to a CGG expansion in FMR1, includes fragile X syndrome (>200 repeats) and the premutation-associated disorders of ovarian insufficiency and tremor/ataxia syndrome (approximately 55-199 repeats). Altered neurobehavioral profiles including variation of phenotypes associated with mood and anxiety may be expected among(More)
Abstract: Carriers of expanded, but unmethylated, premutation alleles of the fragile X mental retardation gene are at risk for a late-onset tremor/ataxia syndrome, mostly affecting men over age 50. However, the general neuropsychological and neurobehavioral impact of carrying a premutation allele in younger adults not affected by the tremor/ataxia syndrome(More)
  • Michele Rusin
  • Archives of physical medicine and rehabilitation
  • 1990
Rehabilitation medicine and geriatric medicine are similar in their concern for functional improvement in the face of chronic medical conditions. Although many patients served by rehabilitation medicine fall within the geriatric age range, a knowledge of normal aging does not necessarily inform clinical decision making or research practices in(More)
OBJECTIVE Carriers of the FMR1 premutation allele are at a significantly increased risk for a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). The primary features of FXTAS are late-onset intention tremor and gait ataxia. Previous reports have shown global deficits in neuropsychological measures among males with(More)
  • Michele Rusin
  • Archives of physical medicine and rehabilitation
  • 1992
Resuscitation discussions can elicit potent emotional reactions from both health care providers and consumers. In rehabilitation settings, decision making grows more difficult if decisions must be sought from family members or proxies of incompetent patients. There is ample room for emotions and lack of clarity to lead to dissatisfaction and heightened(More)
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