First case of an UBQLN2 gene mutation causing frontotemporal dementia preceded by adult onset psychiatric symptoms

2020 ◽  
Vol 21 (5-6) ◽  
pp. 467-469
Author(s):  
Alberto Raggi ◽  
Anna Bartoletti-Stella ◽  
Piero Parchi ◽  
Sabina Capellari
2003 ◽  
Vol 250 (6) ◽  
pp. 733-740 ◽  
Author(s):  
Alexander Lossos ◽  
Avinoam Reches ◽  
Aya Gal ◽  
Joel P. Newman ◽  
Dov Soffer ◽  
...  

2021 ◽  
Author(s):  
Isabelle Brock ◽  
Nicole Eng ◽  
Anne Maitland

Abstract Mast Cell Activation syndrome (MCAS) is a clinical condition, defined by the combination of 1) typical symptoms, 2) laboratory abnormalities and 3) response to treatment. Patients present with episodic symptoms of aberrant mast cell activation, such as abdominal cramping, asthma, hypotensive episodes, tachycardia, anaphylaxis, unexplained arrhythmias, and neurologic/psychiatric symptoms. Both clonal and nonclonal mast cell activation syndromes have been described, with a greater prevalence of non-clonal MCAS among the pediatric and adult population. Numerous extrinsic triggers of mast cell activation (MCA) are described, but recent reports point to nonatopic triggers, as the predominant, extrinsic stimulants of MCA in the adult population. The etiology of MCAS is unclear, though recent studies point to the disruption of the epithelium by infection, toxic exposures or physical trauma, and perturbation the tight regulation of these innate immune cells, associated to the epithelial borders. Here we describe a geriatric patient with adult onset MCAS, following a significant toxic exposure, scombroid poisoning. We also review the relevant literature regarding MCAS diagnosis and management as well as potential mechanisms for this hypersensitivity syndrome in adults.


2014 ◽  
Vol 8 (1) ◽  
pp. 83-86 ◽  
Author(s):  
Ricardo Nitrini

ABSTRACT The occurrence of dementia in amyotrophic lateral sclerosis (ALS) was only widely recognized in the late 20th century. Hitherto, it was believed that dementia was a rare event due to the fortuitous association with other diseases. In 1924, Kostantin Nikolaevich Tretiakoff and Moacyr de Freitas Amorim reported a case of dementia with features of frontotemporal dementia (FTD) that preceded the motor signs of ALS. Neuropathological examination confirmed ALS and found no signs of other dementia-causing diseases. The authors hypothesized that dementia was part of ALS and recommended the search for signs of involvement of motor neurons in cases of dementia with an ill-defined clinical picture, a practice currently accepted in the investigation of cases of FTD. This was one of the first descriptions of dementia preceding the motor impairments of ALS and was published in Portuguese and French in Memórias do Hospício de Juquery.


2017 ◽  
Vol 26 (53) ◽  
pp. 67-70
Author(s):  
Agnieszka Oknińska ◽  
◽  
Hanna Mierzewska ◽  
Robert Śmigiel ◽  
Małgorzata Rydzanicz ◽  
...  

2017 ◽  
Vol 5 (S2) ◽  
pp. AB037-AB037
Author(s):  
Khunton Wichajarn ◽  
Pakaphan Kiatchoosakul ◽  
Ratana Komwilaisak
Keyword(s):  

2020 ◽  
Vol 8 (1) ◽  
pp. 126-132
Author(s):  
Yuwa Oka ◽  
Hidemoto Saiki ◽  
Yasumasa Hashimoto ◽  
Yuta Terada ◽  
Takashi Nakamura ◽  
...  

2005 ◽  
Vol 45 (2) ◽  
pp. 67-69 ◽  
Author(s):  
Yonehiro Kanemura ◽  
Yuuichi Takuma ◽  
Hiroyuki Kamiguchi ◽  
Mami Yamasaki
Keyword(s):  

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