Coexistence of Huntington's disease and familial amyotrophic lateral sclerosis: case presentation

1996 ◽  
Vol 92 (4) ◽  
pp. 421-427 ◽  
Author(s):  
A. Rubio ◽  
K. Steinberg ◽  
D. A. Figlewicz ◽  
M. E. MacDonald ◽  
T. Greenamyre ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Case Presentation ◽  
Amyotrophic Lateral Sclerosis Case ◽  
Lateral Sclerosis

scholarly journals A modular tool to query and inducibly disrupt biomolecular condensates

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Carmen N. Hernández-Candia ◽  
Sarah Pearce ◽  
Chandra L. Tucker
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Cellular Function ◽  
Biological Role ◽  
Cellular Biology ◽  
Condensate Formation ◽  
Health And Disease ◽  
Lateral Sclerosis

AbstractDynamic membraneless compartments formed by protein condensates have multifunctional roles in cellular biology. Tools that inducibly trigger condensate formation have been useful for exploring their cellular function, however, there are few tools that provide inducible control over condensate disruption. To address this need we developed DisCo (Disassembly of Condensates), which relies on the use of chemical dimerizers to inducibly recruit a ligand to the condensate-forming protein, triggering condensate dissociation. We demonstrate use of DisCo to disrupt condensates of FUS, associated with amyotrophic lateral sclerosis, and to prevent formation of polyglutamine-containing huntingtin condensates, associated with Huntington’s disease. In addition, we combined DisCo with a tool to induce condensates with light, CRY2olig, achieving bidirectional control of condensate formation and disassembly using orthogonal inputs of light and rapamycin. Our results demonstrate a method to manipulate condensate states that will have broad utility, enabling better understanding of the biological role of condensates in health and disease.

Acoustic Analysis of Voices of Patients with Neurologic Disease: Rationale and Preliminary Data

1988 ◽  
Vol 97 (2) ◽  
pp. 164-172 ◽  
Author(s):  
Lorraine A. Ramig ◽  
Ingo R. Titze ◽  
Ronald C. Scherer ◽  
Steven P. Ringel
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Preliminary Data ◽  
Acoustic Analysis ◽  
Neurologic Disease ◽  
Clinical Value ◽  
Neurologic Disorders ◽  
Speech Pathologist ◽  
Lateral Sclerosis

This paper presents a rationale for acoustic analysis of voices of neurologically diseased patients, and reports preliminary data from patients with myotonic dystrophy, Huntington's disease, Parkinson's disease, and amyotrophic lateral sclerosis, as well as from individuals at risk for Huntington's disease. Noninvasive acoustic analysis may be of clinical value to the otolaryngologist, neurologist, and speech pathologist for early and differential diagnosis and for documenting disease progression in these various neurologic disorders.

Huntington's disease presenting as amyotrophic lateral sclerosis

2009 ◽  
pp. 1-3 ◽  
Author(s):  
Julie Phukan ◽  
Elfatih Ali ◽  
Niall Pender ◽  
Fiona Molloy ◽  
Michael Hennessy ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Lateral Sclerosis

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

2012 ◽  
Vol 13 (3) ◽  
pp. 265-269 ◽  
Author(s):  
Eliana Marisa Ramos ◽  
Pamela Keagle ◽  
Tammy Gillis ◽  
Patrick Lowe ◽  
Jayalakshmi S. Mysore ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene ◽  
Cag Repeat ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis and Huntington’s disease: Neurodegenerative link or coincidence?

2013 ◽  
Vol 15 (1-2) ◽  
pp. 145-147 ◽  
Author(s):  
Suresh Kumar Chhetri ◽  
Rejith Dayanandan ◽  
Dorothea Bindman ◽  
David Craufurd ◽  
Tahir Majeed
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Lateral Sclerosis

Association of genetically proven Huntington’s disease and sporadic amyotrophic lateral sclerosis in a 72-year-old woman

2006 ◽  
Vol 253 (12) ◽  
pp. 1649-1650 ◽  
Author(s):  
Sokratis G. Papageorgiou ◽  
Alexandra Antelli ◽  
Anastasios Bonakis ◽  
Evangelos Vassos ◽  
Ioannis Zalonis ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

scholarly journals A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

2014 ◽  
Vol 35 (6) ◽  
pp. 1513.e7-1513.e11 ◽  
Author(s):  
Andrea Calvo ◽  
Cristina Moglia ◽  
Antonio Canosa ◽  
Maura Brunetti ◽  
Marco Barberis ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Nonsense Mutation ◽  
De Novo ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Amyotrophic Lateral Sclerosis Case ◽  
Lateral Sclerosis
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