Jara-Prado A, Rodríguez-Violante M, Sánchez-García D, Dávila-Ortiz de Montellano DJ

Language: Spanish
References: 19
Page: 54-60
PDF size: 842.67 Kb.

ABSTRACT

The FMR1 gene contains an expanded CGG trinucleotide repeats a microsatellite zone CGG whose repeats number is variable in the population. The complete FMR1 mutation usually results in abnormal hypermethylation of the gene and the loss of its expression, clinically reflected in the fragile X syn-drome. The intermediate CGG repeats have been related to the Fragile X-related Tremor / Ataxia Syn-drome and Premature Ovarian Failure. In this study we present 3 related patients: mother, daughter and son, in whom the determination of the expanded CGG of FMR1 and its methylation status was car-ried out, as well as a description of the clinical pictures are presented. We conclude that in patients with expanded FMR1, the clinical manifestations seem to represent a continuous spectrum ranging from behavioral alterations, movement disorders and neuropathy to typical fragile X syndrome. High index of suspicion should always be maintained in patients with complex neurological and neuropsychiatric manifestations of undefined etiology.

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