scholarly journals Chorea–Acanthocytosis and the Huntington Disease Allele in an Irish Family

2018 ◽  
Vol 8 (0) ◽  
pp. 604
Author(s):  
Olwen C. Murphy ◽  
Orna O’Toole ◽  
Collette K. Hand ◽  
Aisling M. Ryan
Author(s):  
Falaq Naz ◽  
Yasir Hasan Siddique

: Neurodegenerative diseases including Alzheimer’s, Parkinson’s and Huntington disease are have serious concern due to its effect on the quality of life of affected persons. Neurodegenerative diseases have some limitations for both diagnostic as well as at treatment level. Introducing nanotechnology, for the treatment of these diseases may contribute significantly in solving the problem. There are several treatment strategies for the neurodegenerative diseases, but their limitations are the entry into the due to the presence of the blood-brain barrier (BBB). The present review highlights the application of nanotechnology during last 20 years for the treatment of neurodegenerative diseases.


1992 ◽  
Vol 158 (1) ◽  
pp. 215-216 ◽  
Author(s):  
A Denys ◽  
A Leroy-Willig ◽  
D Riche ◽  
P Hantraye

Author(s):  
Jane S. Paulsen

Huntington disease (HD) is a autosomal dominant neurodegenerative disease caused by expansion of a trinucleotide repeat (cytosine, adenine, and guanine [CAG]) on the short arm of chromosome four. Average age of motor diagnosis is 39 years, and age at diagnosis is associated with the length of the CAG mutation. The prodrome of HD can be recognized 15 years prior to motor diagnosis and is characterized by subtle impairments in emotional recognition, smell identification, speed of processing, time estimation and production, and psychiatric abnormalities. HD shows particular vulnerability of the medium spiny neuron in the basal ganglia. Progressive brain dysfunction and neuron death lead to insidious loss of function in motor, cognitive, and behavioral control over 34 years (17 prodromal and 17 post-diagnosis). Treatment plans rely on genetic counseling, psychiatric symptom treatment as needed, physical therapy, and environmental modifications. There are two treatments for the reduction of chorea, but there are no disease-modifying therapies. Experimental therapeutics are rapidly emerging with multiple and various targets, however, and gene therapies to silence the mutant HD gene are currently ongoing. This chapter reviews clinical and neuropathological descriptions of HD and discusses potential underlying mechanisms and animal models, diagnostic and clinical assessments used to characterize and track the disease, treatment planning, and challenges for research to advance care.


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