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The article presents three case studies involving amyotrophic lateral sclerosis (ALS) without abnormal cytoplasmic accumulation of fused in sarcoma (FUS) mutation. The three cases described ALS-FUS with TATA-binding protein-associated factor 15 (TAF15) and Trn1 accumulation without FUS mutation. Findings in the study showed an older age of onset and different morphological phenotypes in terms of disease duration in ALS-FUS cases without mutations.

The article presents a case study of a 37-year-old female with a history of epilepsy, epidermoid cyst and focal complex seizures consistent with the diagnosis of neuronal intermediate filament inclusion disease (NIFID). The diagnosis was confirmed after magnetic resonance imaging (MRI) of the brain, neuropsychological and histological examination. The link of NIFID with frontotemporal lobal degeneration (FTD), accumulations of neuronal intermediate filaments and FET proteins is discussed.

The article discusses progressive supranuclear palsy (PSP) as a low-prevalence atypical parkinsonism with early falls and late hallucinations, psychosis and dementia thus causing challenges in its differential diagnosis from Parkinson's disease (PD) and corticobasal degeneration. Topics include frontotemporal lobar degeneration-fused in sarcoma proteinopathy(FTLD-FUS) of the neuronal intermediate filament inclusion disease type, brain imaging techniques, and gene sequencing analysis.

Aims Parkinson's disease (PD) and dementia with Lewy bodies (DLB) are pathologically characterized by intraneuronal α-synuclein aggregates and thus labelled as Lewy body disorders (LBD). Conjoint cortical α-synuclein, tau and amyloid-β (Aβ), and striatal Aβ aggregates, have been related to dementia in LBD. Interpretation of current and emerging in vivo molecular imaging of these pathologies will need of precise knowledge of their topographic distribution. We aimed to assess these pathologies further down the encephalon across the LBD-spectrum. Methods Semiquantitative rating of α-synuclein, Aβ and hyperphosphorylated tau aggregates in midbrain (and cerebellum in the case of Aβ as it represents the last β-amyloidosis stage) sections from cases representative of the LBD-spectrum (PD non-dementia, PD-dementia, DLB; n = 10 each) compared to controls ( n = 10) and Alzheimer's disease (AD; n = 10). Results α-synuclein midbrain scores rose from controls to AD and then LBD irrespective of dementia. Aβ and tau were more prominent in the tectum/tegmentum, increasing from controls to LBD (mostly in dementia cases in the case of Aβ), and then peaking in AD. By contrast, cerebellar Aβ scores were marginal across the LBD-spectrum, as opposed to AD, only showing a trend towards greater involvement in LBD cases with dementia. Conclusions Frequency and severity of Aβ and tau pathologies in the midbrain across the LBD-spectrum were midway between controls and AD, with Aβ in the tectum/tegmentum being associated with dementia. These findings might have potential implications in the eventual interpretation of regional uptake of in vivo molecular imaging of these pathologies. [ABSTRACT FROM AUTHOR]

The article presents a neuropathological study of a 60-year-old man with frontotemporal lobar degenerations (FTLD) to determine the correlation of TARDBP mutation p.Ile383Val with semantic dementia and complex proteinopathy. The study investigates the temporally accentuated atrophy. The study concludes that the presence of p.Ile383Val mutation in TARDBP indicates a complex clinico-genetic-neuropathological relationships within the continuum FTLD-amyotrophic lateral sclerosis (ALS).

Reports on the Ten Years of EC-Funded Concerted Actions on the Neuropathology of Prion Disease: Report on the Final Scientific Meeting held in Austria from October 31 to November 2003. Discussion on the basic aspects of transmissible spongiform encephalopathy; Progress in prion disease research; Guest speakers.