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  1. Home /
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  3. Vol 48 No 3 (2017) /
  4. Case Report

Tremor-Ataxia Syndrome and Primary Ovarian Insufficiency in an FMR1 Premutation Carrier

  • Abstract
  • Keywords
  • Author Biographies
  • References

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.

Authors

  • Wilmar Saldarriaga-Gil Universidad del Valle, Cali, Colombia.
  • Tatiana Rodriguez-Guerrero Universidad del Valle, Cali, Colombia
  • Andres Fandiño-Losada Universidad del Valle
  • Julian Ramirez-Cheyne Universidad del Valle, Cali, Colombia

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Keywords

  • Síndrome de temblor y ataxia X fragil
  • complicaciones/ataxia
  • diagnostico/ataxia
  • genetica/ataxia
  • FXPOI
  • FXTAS
  • gen FMR1.

Author Biographies


, Universidad del Valle, Cali, Colombia.
Grupo de investigación MACOS, Departamento Morfología, Facultad de Salud

, Universidad del Valle, Cali, Colombia
Departamento de Medicina y Cirugía, Facultad de Salud

, Universidad del Valle
Escuela de Salud Pública, Universidad del Valle, Cali, Colombia.

, Universidad del Valle, Cali, Colombia
Grupo de investigación MACOS, Departamento Morfología, Facultad de Salud

References

Online Mendelian Inheritance in Man. An Online Catalog of Human Genes and Genetic Disorders. Entry - # 300624 - Fragile X Mental Retardation Syndrome. Cited: 2014 Aug 31. Available from: http://www.omim.org/entry/300624.

Saldarriaga W, Tassone F, González-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R. Síndrome de X Frágil. Colomb Med (Cali). 2014; 45(4): 190-8.

Hagerman RJ, Hagerman P. Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. Nat Rev Neurol. 2016; 12(7): 403-12.

Pirozzi F, Tabolacci E, Neri G. The FRAXopathies: Definition, overview, and update. Am J Med Genet A. 2011; 155A(8): 1803-16.

Saldarriaga W, Lein P, González TLY, Isaza C, Rosa L, Polyak A, et al. Phenobarbital use and neurological problems in FMR1 premutation carriers. Neurotoxicology. 2016; 53: 141-7.

Faher S, Tolosa E, Marin C. Clinical rating scale for tremor. En: Jankovic J, Tolosa E. Parkinson´s Disease and Movement Disorder. Baltimore: Urban & Schwarzenberg. 1988. p:225-34.

Spitzer RL, Kroenke K, Williams JBW, Löwe B. A brief measure for assessing generalized anxiety disorder: The GAD-7. Arch Internal Med. 2006; 166(10): 1092-7.

Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J. Epidemiology of fragile X syndrome: A systematic review and meta-analysis. Am J Med Genet A. 2014; 164A(7): 1648-58.

Grigsby J, Brega AG, Bennett RE, Bourgeois JA, Seritan AL, Goodrich GK, et al. Clinically significant psychiatric symptoms among male carriers of the fragile X premutation, with and without FXTAS, and the mediating influence of executive functioning. Clin Neuropsychol. 2016; 30(6): 944-59.

Cordeiro L, Abucayan F, Hagerman R, Tassone F, Hessl D. Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands. Intractable Rare Dis Res. 2015; 4(3): 123-30.

Grigsby J, Brega AG, Bennett RE, Bourgeois JA, Seritan AL, Goodrich GK, et al. Clinically significant psychiatric symptoms among male carriers of the fragile X premutation, with and without FXTAS, and the mediating influence of executive functioning. Clin Neuropsychol. 2016; 30(6): 944-59.

Lozano R, Saito N, Reed D, Eldeeb M, Schneider A, Hessl D, et al. Aging in Fragile X Premutation Carriers. Cerebellum. 2016; 15(5): 587-94.

Chonchaiya W, Au J, Schneider A, Hessl D, Harris SW, Laird M, et al. Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Hum Genet. 2012; 131(4): 581-9.

Welt CK, Smith PC, Taylor AE. Evidence of early ovarian aging in fragile X premutation carriers. J Clin Endocrinol Metab. 2004; 89(9): 4569-74.

Wheeler AC, Raspa M, Green A, Bishop E, Bann C, Edwards A, et al. Health and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency. Front Genet. 2014; 5: 300.

Sherman SL, Allen EG, Spencer JB, Nelson LM. Clinical manifestation and management of FXPOI. In: Tassone F, Hall DA, editors. FXTAS, FXPOI, and Other Premutation Disorders. Second. Switzerland: Springer; 2016. pp 199-224.

Sethna F, Moon C, Wang H. From FMRP function to potential therapies for fragile X syndrome. Neurochem Res. 2014; 39(6): 1016-31.

Usdin K, Hukema RK, Sherman SL. Model systems for understanding FXPOI. In: Tassone F, Hall DA (eds). FXTAS, FXPOI, and Other Premutation Disorders. second. Switzerland: Springer; 2016. p. 225-40.

Hall DA, Berry-Kravis E, Hagerman RJ, Hager- Man PJ, Rice CD, Leehey MA. Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome. Mov Disord. 2006; 21(10): 1741-4..

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Published
2017-09-20
Submitted
2017-03-23
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How to Cite
Saldarriaga-Gil, W., Rodriguez-Guerrero, T., Fandiño-Losada, A., & Ramirez-Cheyne, J. (2017). Tremor-Ataxia Syndrome and Primary Ovarian Insufficiency in an FMR1 Premutation Carrier. Colombia Médica, 48(3), 148-151. https://doi.org/10.25100/cm.v48i3.3019
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Vol 48 No 3 (2017)
Section
Case Report

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