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Neuroimaging-guided diagnosis of possible FTLD-FUS pathology: a case report
Gregory Mathoux1, Cecilia Boccalini2, Aurelien Lathuliere3
1Division of Nuclear Medicine and Molecular Imaging, Geneva University Hospitals, Geneva, Switzerland.
Background:
This case report presents a patient with progressive memory loss and choreiform movements.
Case Presentation:
Neuropsychological tests indicated multi-domain amnestic mild cognitive impairment (aMCI), and neurological examination revealed asymmetrical involuntary hyperkinetic movements. Imaging studies showed severe left-sided atrophy and hypometabolism in the left frontal and temporoparietal cortex. [18F]Flortaucipir PET exhibited moderately increased tracer uptake in hypometabolic areas. The diagnosis initially considered Alzheimer's disease (AD), frontotemporal degeneration (FTD), and corticobasal degeneration (CBD), cerebral hemiatrophy syndrome, but imaging and cerebrospinal fluid analysis excluded AD and suggested fused-in-sarcoma-associated FTD (FTLD-FUS), a subtype of the behavioural variant of FTD.
Conclusions:
Our case highlights that despite the lack of specific FUS biomarkers the combination of clinical features and neuroimaging biomarkers can guide choosing the most likely differential diagnosis in a complex neurological case. Imaging in particular allowed an accurate measure of the topography and severity of neurodegeneration and the exclusion of AD-related pathology.
Insights
This case report details a patient with memory loss and movement disorders. Neuroimaging and clinical findings pointed to FTLD-FUS, excluding Alzheimer's disease.
Area of Science:
- Neurology
- Neuroimaging
- Neurodegenerative Diseases
Background:
- Presents a case of progressive memory loss and choreiform movements.
- Highlights diagnostic challenges in complex neurological presentations.
Purpose of the Study:
- To illustrate the diagnostic utility of integrated clinical and neuroimaging data.
- To differentiate between various neurodegenerative conditions.
Main Methods:
- Neuropsychological testing revealed amnestic mild cognitive impairment (aMCI).
- Neurological examination showed asymmetrical hyperkinetic movements.
- Advanced neuroimaging including [18F]Flortaucipir PET and CSF analysis were performed.
Main Results:
- Imaging demonstrated severe left-sided atrophy and hypometabolism.
- [18F]Flortaucipir PET showed increased uptake in affected areas.
- Diagnosis shifted from initial considerations (AD, FTD, CBD) to fused-in-sarcoma-associated FTD (FTLD-FUS).
Conclusions:
- Clinical features and neuroimaging biomarkers are crucial for diagnosing complex neurological cases, even without specific biomarkers.
- Neuroimaging accurately measured neurodegeneration severity and topography, aiding in excluding Alzheimer's disease pathology.
