Year: 2025
Type: article
Study design: Case Report
Abstract: BACKGROUND: FXTAS Syndrome (Fragile X-Associated Tremor/Ataxia Syndrome) is a neurodegenerative disease with late onset, which manifests in men and women carrying the mutation in the FMR1 gene, located in the X-chromosome. The disease manifests with high phenotypic variability (tremor, cerebellar ataxia, parkinsonism, oculomotor disorders, cognitive and mental disorders). Due to the insufficient awareness among the physicians on this disease, FXTAS Syndrome patients often get incorrect diagnosis (essential tremor, Parkinson disease, multisystem atrophy, spinocerebellar ataxia etc.). CLINICAL CASE DESCRIPTION: The case presented is the patient aged 68 years with a severe past medical history (ischemic heart disease, post-infarction cardiosclerosis with the formation of post-infarction aneurism, arterial hypertension, pulmonary tuberculosis, chronic obstructive pulmonary disease, type 2 diabetes), in which the FXTAS Syndrome has first manifested with tremors, impaired coordination of motions, balance problems, cognitive disorders and affective disorders. The disease was confirmed by the genetic test (in the FMR1 gene, 96 CGG repeats were found). The patient’s daughter was examined with detecting the premutation of the FMR1 gene, while the grandson has a Martin-Bell syndrome. CONCLUSION: Neurologists and specialists of adjacent fields should keep in mind the FXTAS Syndrome (Fragile X-Associated Tremor/Ataxia Syndrome) and, in case of the patient having the corresponding symptoms, should rule out this rare neurodegenerative disease by arranging the genetic testing to reveal the mutation in the FMR1 gene.
Source: Journal of clinical practice
Authors: Ekaterina S. Ostapchuk, Maksim V. Malakhov, Sona S. Chikviladze, Vitaly V. Kuznetsov, Yuliya S. Morozova
Institution: Tyumen State Medical University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4414145973