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Fragile X-Premutation Tremor/Ataxia Syndrome (Fxtas) in a Young Woman: Clinical, Genetics, Mri and 1H-Mr Spectroscopy Correlates

Helena Šarac
Neven Henigsberg
Jasenka Markeljević
Goran Pavliša
Patric R. Hof
Goran Šimić

Puni tekst: engleski pdf 240 Kb

str. 327-332

preuzimanja: 481



It is generally thought that fragile X-associated tremor/ataxia syndrome (FXTAS) represents a late-onset neurodegenerative disorder occuring in male carriers of a premutation expansion (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR 1) gene. However, several female patients with FXTAS have also been reported recently. Here, we describe a 23-year old woman with positive family history of mental retardation and autism who presented clinically with action tremor, ataxia, emotional disturbances and cognitive dysfunction. Magnetic resonance imaging (MRI) of the brain showed diffuse cortical atrophy, while 1H-MR spectroscopy (MRS) revealed decreased levels of N-acetylaspartate (NAA) in the cerebellum, basal ganglia, and pons. Genetic testing confirmed heterozygous FMR 1 gene premutation of 100 CGG repeats in the abnormal allele and 29 CGG repeats in the normal allele. We concluded that FXTAS may be an under-recognized disorder, particularly in women.

Ključne riječi

FMR1 gene; fragile X premutation; tremor; cerebellar ataxia; cognitive impairment; genetics; MRI; 1H-MR spectroscopy

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