Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder characterized by progressive action tremor and ataxia that occurs in premutation carriers of the FMR1 gene. The incidence of FMR1 premutated carriers in the general population is relatively high, and therefore FXTAS might explain a considerable number of sporadic, late-onset ataxias. To better establish the prevalence of FXTAS among undiagnosed Spanish patients with ataxia, we have performed a FMR1 premutation screening. Our results evidenced three individuals carrying premutated alleles, giving an estimated FXTAS prevalence of 1.95% among patients with late-onset ataxia (1.15% for males and 3% for females). Molecular characterization of premutation carriers evidences lower fragile X mental retardation 1 protein levels and increased FMR1 mRNA levels. Clinical and neuroimaging findings support FXTAS diagnosis in these patients. Because of the high prevalence of FMR1 premutation in the general population, the description and characterization of the FXTAS syndrome is of great interest as it may represent one of the more common monogenic causes of ataxia, tremor, and dementia. The results obtained in this study demonstrate that FXTAS should be incorporated to spinocerebellar ataxia genetic screening protocols. Early diagnosis of these patients benefits not only them but also the rest of the family that should be advised for the fragile X syndrome.

Fragile X syndrome is the most common form of hereditary mental retardation. The molecular basis of this syndrome is mainly a CGG expansion in the 5' untranslated region of the FMR1 gene. Expansions with more than 200 CGG repeats abolish gene expression causing the classical fragile X phenotype. Premutation carriers (55-200 CGG) have normal cognitive function with increased risk of developing premature ovarian failure and fragile X-associated tremor-ataxia syndrome (FXTAS). Some clinical features associated with FXTAS, such as tremor, gait ataxia, cognitive decline, and generalized brain atrophy, are also seen in other movement disorders. Ninety-five patients referred for HD, who tested negative for the expansion in the IT15 gene, were screened for FMR1 CGG-repeat expansion. One FMR1 premutation male carrier was detected, giving an FXTAS frequency of 1.6%. Our results highlight that FXTAS is still not well diagnosed; therefore, we recommend FMR1 premutation screenings in all patients with late-onset tremor, ataxia, and cognitive dysfunction.

e14033 Background: In 2015, in our outpatient clinic, we implemented a breast cancer interdisciplinary team with the goal of identifying risk factors for chemotherapy delay. Evaluation of individual cases and care plans were made by a medical oncologist, clinical pharmacologist, psychologist, dietician and oncology nurse. Methods: 81 patients with breast cancer in neoadjuvant/adjuvant chemotherapy were prospectively evaluated from July 2018 until July 2019 for clinical risk: age, anthracyckine use, presence of symptoms grade >3, ASGPPP questionnaire for nutritional risk, psychological risk for pre existent issues or induce by treatment and IRPO questionnaire for screening, nursing evaluation for comunication, organization and understanding issues, and pharmacologist evaluation of polypharmacy and unknown drugs or routine use. Results: Of 81 patients evaluated and had finish treatment, 55 pts (67.9%) received adjuvant chemotherapy. Median age was 57.9 years (range:29-90.6y). We defined as risk factors for delay chemotherapy treatment: anthracycline-based chemotherapy (9.34 vs 2.58 d p:0.002), psychological risk (both risks combined) (8.1 vs 4.7 p:0.047), comunication, organization and understanding issues (15.25 vs 5.83 d p: 0.004), and unknown drugs that routinely uses (11 vs 5.34d p:0.012). Patients who needed extra nutritional and psychological appointment had greater delay in chemotherapy (Dietician: 9.636 vs 4.7 d P:0.01; Psyc: 9.1 vs 4.2d p:0.008). Conclusions: The chemotherapy scheme, psychological risk, difficulty in understanding and organizing, and unaware of the drugs used routinely uses were high risk factors for delayed chemotherapy and these patients should be handled more carefully.

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