Dropped head syndrome in a patient with FTD-ALS caused by abnormal expansion of C9orf72 gene

2019 ◽  
Vol 41 (4) ◽  
pp. 951-952 ◽  
Author(s):  
Andrea Quattrone ◽  
Maurizio Morelli ◽  
Rita Nisticò ◽  
Ida Manna ◽  
Aldo Quattrone
2016 ◽  
Vol 38 (1) ◽  
pp. 207-208
Author(s):  
Alba Rosa Pati ◽  
Carla Battisti ◽  
Stefania Battistini ◽  
Claudia Ricci ◽  
Antonella Trapassi ◽  
...  

2021 ◽  
Vol 132 (8) ◽  
pp. e120
Author(s):  
Nurul Maisarah Sainuddin ◽  
Christopher Chua ◽  
Sibi Sunny ◽  
Joy Vijayan ◽  
Kay Ng

2013 ◽  
Vol 127 (3) ◽  
pp. 347-357 ◽  
Author(s):  
Ian R. A. Mackenzie ◽  
Petra Frick ◽  
Manuela Neumann

2011 ◽  
Vol 2011 ◽  
pp. 1-7 ◽  
Author(s):  
Annapurna Nayak ◽  
Rafia Ansar ◽  
Sunil K. Verma ◽  
Domenico Marco Bonifati ◽  
Uday Kishore

Huntington's disease (HD) is a progressive neurodegenerative disorder that is caused by abnormal expansion of CAG trinucleotide repeats. Neuroinflammation is a typical feature of most neurodegenerative diseases that leads to an array of pathological changes within the affected areas in the brain. The neurodegeneration in HD is also caused by aberrant immune response in the presence of aggregated mutant huntingtin protein. The effects of immune activation in HD nervous system are a relatively unexplored area of research. This paper summarises immunological features associated with development and progression of HD.


2021 ◽  
Vol 26 (1) ◽  
Author(s):  
Kenji Endo ◽  
Jun Matsubayashi ◽  
Yasunobu Sawaji ◽  
Kazuma Murata ◽  
Takamitsu Konishi ◽  
...  

Abstract Background To date, the histopathologic characteristics of dropped head syndrome (DHS) have not been reported sufficiently. The present study investigates the histopathology of biopsy specimens from the cervical paravertebral region in patients with DHS. Methods Histopathological parameters were evaluated in biopsy specimens of the cervical paravertebral soft tissue from 15 patients with DHS. Results Among the 15 cases of DHS examined, skeletal muscle was identified in 7 cases, all of which showed necrosis, microvessel proliferation and atrophy. The ligament was identified in 12 cases, 8 of which showed degeneration. The lag time between the onset of symptoms and the performance of a biopsy in all 8 cases, which showed degeneration was over 3 months. Microvessel proliferation in the ligament was observed in 1 of the 4 cases, in which the lag time between the onset of symptoms and the performance of a biopsy was less than 3 months (acute or subacute phase), and in 7 of the 8 cases, in which the lag time between the symptoms and the performance of a biopsy was over 3 months (chronic phase). Chronic inflammation in the ligament was identified in 1 of the 12 cases. Conclusions The identification of necrosis, microvessel proliferation, and atrophy in the skeletal muscle of patients with DHS and the presence of ligament degeneration and microvessel proliferation in the chronic but not acute or subacute phases may suggest that persistent skeletal muscle damage of the cervical paravertebral region causes subsequent ligament damage in patients with DHS.


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