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Revista Colombia Médica
Universidad del Valle - Facultad de Salud
ISSN: 0120-8322
EISSN: 1657-9534
Vol. 48, No. 3, 2017, pp. 147-150
Bioline Code: rc17051
Full paper language: English
Document type: Case Report
Document available free of charge

Revista Colombia Médica, Vol. 48, No. 3, 2017, pp. 147-150

 en Tremor-Ataxia Syndrome and Primary Ovarian Insufficiency in an FMR1 Premutation Carrier
Saldarriaga-Gil, Wilmar; Rodriguez-Guerrero, Tatiana; Fandiño-Losada, Andres & Ramirez-Cheyne, Julian


Introduction: The FMR1 gene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) syndrome.
Case description: The patient was a 53-year-old female farmer with severe tremor in the upper limbs at rest that worsens with movement, tremor in the jaw and tongue, and generalized cerebral atrophy. She is a carrier of the FMR1 premutation diagnosed by PCR and Southern Blot, complying with the clinical and radiological criteria of FXTAS, and in addition, has a history of vagal symptoms suggestive of ovarian failure and menstrual cycle disorders that led to hysterectomy at age 33 and was subsequently diagnosed with FXPOI.
Conclusion: An unusual case of FXTAS and FXPOI complying with clinical and radiological criteria is reported in a premutation carrier of the FMR1 gene.

Fragile X Tremor Ataxia Syndrome; Ataxia/complications; Ataxia/diagnosis; Ataxia/genetics; FXPOI; FXTAS; FMR1 gen

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