Objective: There is a growing literature describing the cognitive changes associated with Fragile-X permutation carrier status, though most research to date has been in male carriers who are more likely to develop Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS), a progressive neurodegenerative condition. Females are less likely to develop FXTAS and accompanying dementia, but have higher rates of depression and immune-related disorders. While memory decline and executive dysfunction in male carriers is documented, there is mixed evidence of cognitive changes in female permutation carriers, with some studies showing no changes and others showing subtle declines. Here we describe a case of a 50 year-old Caucasian female who presents with symptoms related to FXTAS, including tremor, gastrointestinal symptoms, and reported cognitive changes. Method: Genetic testing confirmed permutation carrier status of CGG trinucleotide repeats (32 & 80). Neuroimaging was interpreted as normal. She has a son with Fragile-X syndrome and a mother with a movement disorder. Initial symptoms included significant gastrointenstinal distress diagnosed as Crohn's disease with associated prednisone treatment, autoimmune hepatitis, bilateral tremor in upper and lower extremities, cognitive slowing, and anxiety and depression. Results: The patient's neuropsychological profile was notable for mild cognitive inefficiencies, including impaired verbal fluency, relative to high average premorbid functioning. Significant WAIS-IV index score discrepancies were observed, such that verbal comprehension was a notable strength. Conclusion: The patient's profile parallels some published studies showing minor inefficiencies in female permutation carriers. However, psychosocial factors must be also be considered in the differential diagnosis, including child disability, job loss, and response to physical symptoms.
Cognitive Changes in a Woman with Fragile-X Premutation Carrier Status Presenting with Symptoms Related to Fragile-X Associated Tremor/Ataxia Syndrome
S Assuras; C-14
Cognitive Changes in a Woman with Fragile-X Premutation Carrier Status Presenting with Symptoms Related to Fragile-X Associated Tremor/Ataxia Syndrome. Arch Clin Neuropsychol 2016; 31 (6): 646. doi: 10.1093/arclin/acw043.163
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