NeuralCipher Research overview
The text below is the source article’s original abstract under a verified reuse license. cc by
Dual pathology in fragile X mental retardation 1 (FMR1) premutation carriers and fragile X-associated tremor/ataxia syndrome (FXTAS) patients is an emerging phenomenon. Although it includes atypical parkinsonism, neuropathological confirmation is very scarce. Here, we describe neuropathological findings for a female who suffered a severe parkinsonian syndrome with apraxia and supranuclear palsy. She died at the age of 50, six years after the initial diagnosis. Prominent neuronal loss was found in the pallidum, subthalamic nucleus, and tectum, but the loss of Purkinje cells was rather mild. Intranuclear inclusions containing ubiquitin and FMRpolyglycine, a pathological hallmark of FXTAS, were detected in neurons and astrocytes. However, this inclusion pathology was overshadowed by a very prominent four repeat tau accumulation in tufted astrocytes, oligodendroglial coiled bodies, thread structures, and neurons. This is, to best of our knowledge, the first report describing a pathologically confirmed progressive supranuclear palsy - corticobasal syndrome (PSP-CBS) variant case in a FMR1 premutation carrier.
Scientific assessment
Research question
Assess the question within the original study’s scope.
Methods & sample
Check the source article for study design and sample details.
Key findings
An editorially approved findings summary is not yet published for this record.
Limitations
Generalizability, bias and clinical meaning require separate assessment.
Methods, samples and clinical conclusions are not inferred from bibliographic metadata.