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FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutati...
Seixas, Ana; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana; Pinto-Basto, Jorge; Coutinho, PaulaThe fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5'UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assess...
Osteopathia striata with cranial sclerosis.
Barbosa, Mafalda; Perdu, Bram; Senra, Virgílio; Macedo, Filipe; Van Hul, Wim; Reis-Lima, Margarida; Pinto-Basto, JorgeWe report on a female patient who presented failure to thrive, laryngotracheomalacia, conductive deafness and facial dysmorphisms. A skeletal survey revealed thickening of the cranial vault, linear striations in the diametaphyses of all long bones and fan-like striations of the iliac bones. CT scan of the temporal bone showed thickening of the cranial base, sclerotic mastoids, abnormal ossicular fixation and st...
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