Screening for the FMR1 premutation in Greek patients with late-onset movement disorders.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset, X-linked, neurodegenerative disorder that affects premutation carriers of the FMR1 gene. FXTAS is often misdiagnosed as spinocerebellar ataxia (SCA) or Parkinson's disease (PD). Herein, we sought to investigate the frequency, genotypic and phenotypic profile of FXTAS in two cohorts of Greek patients with late-onset movement disorders, one with cerebellar ataxia and the other with PD.

Gonadoblastoma in a patient with del(9)(p22) and sex reversal: report of a case and review of the literature.

Studies of distinct clinical prototypes have significantly contributed to our understanding of evolutionary abnormalities and their association with neoplasia. We describe a phenotypic female, aged 20 years at report, who was examined as an infant for developmental retardation. The clinical characteristics of the 9p- syndrome were present and the external genitalia were those of a normal female.