Saldarriaga-Gil Wilmar, Rodriguez-Guerrero Tatiana, Fandiño-Losada Andres, Ramirez-Cheyne Julian
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, Cali, Colombia.
Colomb Med (Cali). 2017 Sep 30;48(3):148-151. doi: 10.25100/cm.v48i3.3019.
The 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.
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 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.
An unusual case of FXTAS and FXPOI complying with clinical and radiological criteria is reported in a premutation carrier of the gene
根据CGG三联体重复次数，该基因有四种等位基因变体。携带55至200次重复的前突变携带者易患诸如震颤和共济失调综合征（FXTAS）以及脆性X相关原发性卵巢功能不全（FXPOI）综合征等病症。
该患者为一名53岁的女性农民，静息时上肢出现严重震颤，运动时加重，伴有下颌和舌头震颤以及广泛性脑萎缩。她是经聚合酶链反应（PCR）和Southern印迹法诊断的前突变携带者，符合FXTAS的临床和影像学标准，此外，她有迷走神经症状史，提示卵巢功能衰竭和月经周期紊乱，33岁时因这些症状接受了子宫切除术，随后被诊断为FXPOI。
报告了一例符合临床和影像学标准的FXTAS和FXPOI的罕见病例，患者为该基因的前突变携带者
