Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma

We have also been confronted with the morphological dilemma of identifying characteristic hyaline intranuclear neuronal and/or astroglial inclusions in 10 post-mortem brains obtained from brain donors who gave their consent to use the brain tissue for research purposes: do these findings correspond to NIID, do they represent a mere incidental finding accompanying another neurodegenerative disease or are they related to an adult form of fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder presenting with a wide spectrum of motor (tremor, ataxia, parkinsonism), cognitive and psychiatric symptoms in patients carrying a premutation (55–200 CGG repeats) at the fragile X mental retardation 1 gene (FMR1).