Síndrome de Tremor Ataxia y Falla Ovárica Prematura en portadora de la premutación del gen FMR1

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.

Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report.

“…The late-onset-form of VWM resulting from a mutation in one of the five eukaryotic initiation factor 2 B genes (EIF2B1-5) can present with spastic paraparesis, cerebellar ataxia, depression, schizophrenia, primary ovarian failure, and cerebral atrophy; however, the typical vanishing of white matter can be absent [29]. FTXAS, consisting of progressive intention tremor, gait ataxia, parkinsonism, and autonomic dysfunction, is rarely seen in female carriers of a premutation in the fragile X mental retardation 1 (FMR1) gene and may be accompanied by mild cognitive and behavioral deficits or premature ovarian failure [30][31][32][33]. Early involvement of experts and appropriate use of software tools like the "Phenomizer" [34,35] can assist clinicians in navigating the complex landscape of rare neurometabolic disorders and provide valuable advice to the differential diagnosis before ordering more tenuous or costly investigations.…”