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• W2801986390 abstract "View Supplementary Video 1 Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder characterized by intention tremor, cerebellar ataxia, parkinsonism, and cognitive decline. Expanded CGG triplets in the premutation range (55 to 200 CGG) in the fragile X mental retardation gene (FMR1) are responsible for this syndrome.1 The standard diagnostic features of FXTAS require a premutation FMR1 allele plus one or more of the following core diagnostic features: intention tremor, cerebellar ataxia, and white matter disease in the middle cerebellar peduncles (MCP).2 Nevertheless, we present a patient with focal dystonia who was diagnosed with FXTAS despite not having intention tremor or ataxia. A 64-year-old man with no significant past medical or family history referred to our clinic for one year of difficulty using his right arm, especially writing, combing, or picking something up with his right hand. Difficulties were associated with abnormal posturing. On neurological examination, he had action dystonia during writing, and when he flexed his right elbow, his forearm assumed a dystonic posture. A dystonic tremor was also noted in the situations aforementioned. The patient did not have associated ataxia or other movement disorders (Video S1). Montreal Cognitive Assessment and Barcelona Test were performed for evaluating his cognitive status. The scores in both tests were normal. An electromyographic recording of the right forearm during writing demonstrated synchronous discharge of prolonged duration and high amplitude in extensors muscles, superimposed on a slow 5 to 6 Hz tremor, with alternating discharges of the flexors and extensors muscles. A brain magnetic resonance imaging (MRI) showed bilateral and symmetrical hyperintensities in both MCP (Fig. 1A, 1B). This finding has been consistently linked with FXTAS. Direct DNA sequencing of the FMR1 gene revealed the expansion of the CGG triplet repeat in the 5′ noncoding region in premutational range (89 repeats), and although similar cases have not yet been reported, the patient was diagnosed with a novel phenotype of the FXTAS. He was treated with botulinum toxin injection, which achieved a mild improvement of dystonia. Currently, the patient continues working as a lawyer, despite his writing disability. FXTAS is a neurodegenerative disorder caused by a CGG repeat expansion in the premutation range (55 to 200) in the FMR1 gene. Individuals normally possess between five and 54 CGG repeats, and > 200 CGG repeats lead to fragile X syndrome.1 The onset is typically in the early seventh decade of life and it mostly affects men. The FXTAS major signs are cerebellar gait ataxia, intention tremor, frontal executive dysfunction, and global brain atrophy.1 Other findings are parkinsonism, peripheral neuropathy, psychiatric symptoms, and autonomic dysfunction.3 Atypical clinical presentations, such as oculomotor dysfunction, cervical and laryngeal dystonia,4 and spastic paraparesis have been reported.1 Other medical conditions such as cardiac dysfunction, hypertension, and diabetes have also been associated with FXTAS.5 Female carriers do not develop as much ataxia or tremor as males. Instead, they have an increased risk of primary ovarian insufficiency and higher rates of depression or anxiety.6 Isolated focal dystonia mimicking a writer cramp has not been previously reported in association with FXTAS. This case is interesting because the focal dystonia was never accompanied by the core symptoms of FXTAS such as tremor, ataxia, or cognitive decline. This atypical presentation could mean a novel phenotype of this syndrome. Therefore, it is likely the clinical spectrum of the disease is wider than we currently know. Neuropathological studies show that FXTAS patients have eosinophilic intranuclear FMR1 mRNA- containing inclusions in neurons and astrocytes in diffuse regions, including the cortex, basal ganglia, thalamus, hippocampus, amygdala, and substantia nigra. These histopathological changes lead to atrophy. Moreover, the iron metabolism in the brain may also be altered in FXTAS.7 The atrophy and iron deposition in the basal ganglia could explain the appearance of symptoms including dystonia, which occurred in this patient. Neuroimaging is useful because the presence of hyperintensities in the MCP is highly specific of FXTAS. In our case, this finding was the key to reach the diagnosis. Atrophy, white matter changes, and hyperintensities in the splenium of the corpus callosum have also been reported.8 The management of FXTAS is complex, with no single specific treatment; medical intervention is usually limited to prescription of appropriate symptomatic therapies and genetic counseling.9 Treatment with Allopregnanolone has been reported, but the results have not been reliable for motor symptoms endpoints (tremor and ataxia), and although an improvement in cognitive questionnaires was observed, further studies are needed to assess its real usefulness.10 We, the authors, manifest our gratitude to the patient for the predisposition shown during the elaboration of this clinical case. 1. Research Project: A. Conception, B. Organization, C. Execution; 2. Statistical Analysis: A. Design, B. Execution, C. Review and Critique; 3. Manuscript Preparation: A. Writing the First Draft, B. Review and Critique. G.A.B: 1A, 1B, 1C J.M.F-C.: 3B I.L-Z.: 1B A.Y.I.: 1B T.A.: 3B O.A.: 3B Ethical Compliance Statement: We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this work is consistent with those guidelines. The patient's consent was obtained according with all legal regulations for disclosure of data for scientific purposes. The patient signed the form used by Spanish Society of Neurology movement disorders group. Funding sources and conflicts of interest: The authors declare that there are no conflicts of interest relevant to this work. Financial disclosures for previous 12 months: No relevant disclosures for any of the authors. Supporting information may be found in the online version of this article. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
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• W2801986390 date "2018-07-01" @default.
• W2801986390 modified "2023-09-27" @default.
• W2801986390 title "A Novel Clinical Phenotype of Fragile X-Associated Tremor/Ataxia Syndrome" @default.
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• W2801986390 doi "https://doi.org/10.1002/mdc3.12637" @default.
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