Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and Sub-haplotypes.

Importance: The chromosome 17q21.31 region, containing a 900 Kb inversion that defines H1 and H2 haplotypes, represents the strongest genetic risk locus in progressive supranuclear palsy (PSP). In addition to H1 and H2, various structural forms of 17q21.

Lessons learned from a sporadic FUSopathy in a young man: a case report.

Background: In frontotemporal dementia (FTD) spectrum, younger patients may correspond to fusopathy cases, and cognitive decline could be rapidly progressive. We present a clinical and neuropathological description of a patient.

Case Presentation: A 37-year-old man, without a family history of neurodegenerative diseases, was brought by his family to consult for dysarthria and behavioural change.

Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation.

Frontotemporal lobar degeneration caused by GRN mutations is mainly associated with a TDP-43 type A proteinopathy. We present a family with autosomal dominant frontotemporal lobar degeneration caused by a novel GRN nonsense mutation (c.5G>A: p.

Inhibition of neurogenesis in a case of Marburg variant multiple sclerosis.

Introduction: Neural stem cells (NSC) are located essentially in the subventricular zone (SVZ), subgranular zone (SGZ), and along the central canal of the spinal cord. These cells can proliferate in vitro and differentiate into neurons, oligodendrocytes, and astroglia, thus contributing to repair in multiple sclerosis (MS). We conducted a pathological study to analyse neurogenic response in a patient with Marburg variant MS.

Atypical progressive multifocal leukoencephalopathy in a patient with antisynthetase syndrome.

Antisynthetase syndrome is a disorder belonging to the dermatomyositis/polymyositis group, with high rates of morbidity and mortality. We herein present the case of a 71-year-old man who was diagnosed with antisynthetase syndrome and treated with rituximab. Almost three years later, the patient showed right-sided hemiparesis that ultimately progressed to complete hemiplegia and advancing cognitive deterioration with a poor clinical outcome.

[Frontal variant of Alzheimer's disease. Two pathologically confirmed cases and a literature review].

Introduction: Alzheimer's disease (AD) is the most frequent degenerative dementia in our setting. In most patients the initial manifestations of the disease consist in a selective and progressive compromise of memory. Yet, it is not a homogeneous process and in some cases the mode of presentation can be atypical.

Subventricular zone in motor neuron disease with frontotemporal dementia.

Investigate how the subventricular proliferation and organisation is modified in a patient with FTLD-ALS. We studied the subventricular zone (SVZ) of a patient with FTLD-ALS immunohistochemical and histologically. We found an increase of Ki-67 positive cells and neuroblast in the subventricular zone, suggesting an activation of proliferating activity in response to FTD-ALS.