Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered

Pneumosinus dilatans and multiplex: report of three rare cases and review of the literature.

Pneumosinus dilatans is a term used to describe a localized abnormal dilatation of one or more paranasal sinuses without radiological evidence of localized bone destruction, hyperostosis or mucous membrane thickening. The involvement of all paranasal sinuses and mastoid air cells has been named pneumosinus dilatans multiplex. Although the involvement of one or more paranasal sinuses has been reported widely, all paranasal sinuses and the concomitant involvement of mastoid air cells has been reported in only one case. Herein, we present three unusual cases of pneumosinus dilatans (one is a second case of pneumosinus dilatans multiplex in English literature, another is the first reported case of a frontal pneumosinus dilatans case associated with frontoethmoidal meningocele, mental retardation and facial asymmetry and the third one is pneumosinus dilatans with a huge arachnoid cyst) along with the review of relevant literature