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Revista Colombia Médica
Universidad del Valle - Facultad de Salud
ISSN: 0120-8322 EISSN: 0120-8322
Vol. 48, No. 3, 2017, pp. 147-150
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Bioline Code: rc17051
Full paper language: English
Document type: Case Report
Document available free of charge
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Revista Colombia Médica, Vol. 48, No. 3, 2017, pp. 147-150
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Tremor-Ataxia Syndrome and Primary Ovarian Insufficiency in an FMR1 Premutation Carrier
Saldarriaga-Gil, Wilmar; Rodriguez-Guerrero, Tatiana; Fandiño-Losada, Andres & Ramirez-Cheyne, Julian
Abstract
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.
Keywords
Fragile X Tremor Ataxia Syndrome; Ataxia/complications; Ataxia/diagnosis; Ataxia/genetics; FXPOI; FXTAS; FMR1 gen
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© Copyright 2017 - Universidad del Valle Alternative site location: http://colombiamedica.univalle.edu.co
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