Results 31 to 40 of about 5,067,029 (185)

Mutant huntingtin fragmentation in immune cells tracks Huntington's disease progression. [PDF]

, 2012
Huntington's disease (HD) is a fatal, inherited neurodegenerative disorder caused by an expanded CAG repeat in the gene encoding huntingtin (HTT). Therapeutic approaches to lower mutant HTT (mHTT) levels are expected to proceed to human trials, but ...
Salman Haider, Weiss, A, Rachael I. Scahill, Sarah J. Tabrizi, Ulrike Träger, Bates, G, Stephan Grueninger, Wild, Edward J., Weiss, Andreas, Scahill, R, Ralph Andre, Farmer, Ruth, Macdonald, Douglas, Haider, Salman, Macdonald, D, Scahil, Rachael I., Grueninger, Stephan, Chris Frost, Frost, C, Farmer, R, Wild, E, Bilbe, G, Tabrizi, SJ, Ruth Farmer, Tabrizi, Sarah J., Landles, C, Nayana Lahiri, Gillian P. Bates, Edward J. Wild, Scahill, Rachael I, Douglas Macdonald, Rainer Kuhn, Andre, R, Frost, Chris, Kuhn, R, Grueninger, S, Bates, GP, Wild, Edward J, Wild, EJ, Kuhn, Rainer, Graeme Bilbe, Träger, U, Andreas Weiss, Christian Landles, Lahiri, N, Tabrizi, Sarah J, Scahill, RI, Andre, Ralph, Landles, Christian, Traeger, Ulrike, Lahiri, Nayana, Träger, Ulrike, Bilbe, Graeme, Haider, S, Bates, Gillian P, Bates, Gillian P.   +55 more
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Visual system integrity and cognition in early Huntington's disease [PDF]

, 2014
Posterior cortical volume changes and abnormal visuomotor performance are present in patients with Huntington's disease (HD). However, it is unclear whether posterior cortical volume loss contributes to abnormal neural activity, and whether activity ...
Landwehrmeyer, G Bernhard, Ratheiser I., Süssmuth, Sigurd D., Orth, Michael, Depping, Malte S, Nenad Vasic, Wolf, Robert C, Ratheiser, Iris, Iris Ratheiser, Vasic N., Sigurd D. Süssmuth, Depping M. S., Thomann P. A., Thomann, Philipp A., Malte S. Depping, Bernhard Landwehrmeyer, Georg, Süssmuth, Sigurd S, Georg Bernhard Landwehrmeyer, Sprengelmeyer R., Sprengelmeyer, Reiner, Fabio Sambataro, Vasic, Nenad, Sambataro, Fabio, Thomann, Philipp A, Orth M., Depping, Malte S., Philipp A. Thomann, Eva‐Maria Baldas, Reiner Sprengelmeyer, Wolf R. C., Sprengelmeyer, Reiner Heinrich, Robert C. Wolf, Bernhard Landwehrmeyer G., Baldas, Eva Maria, Michael Orth, Baldas E. -M., Sambataro F., Baldas, Eva-Maria, Sussmuth S. D.   +38 more
core   +1 more source

Clinical presentation of juvenile Huntington disease [PDF]

Arquivos de Neuro-Psiquiatria, 2006
OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG) repeat in the Huntington Disease gene.
Ruocco, Heloísa H., Lopes-Cendes, Iscia, Laurito, Tiago L., Li, Li M., Cendes, Fernando   +4 more
openaire   +5 more sources

“Ectopic” theta oscillations and interictal activity during slow-wave state in the R6/1 mouse model of Huntington's disease

Neurobiology of Disease, 2012
The pathophysiology of Huntington's disease (HD) is primarily associated with striatal degeneration and a number of behavioral symptoms such as involuntary movements, cognitive decline, psychiatric disorders, and in the most juvenile-onset cases with ...
Michele Pignatelli, Fanny Lebreton, Yoon H. Cho, Xavier Leinekugel   +3 more
doaj   +1 more source

Brain microvascular endothelial cell dysfunction in an isogenic juvenile iPSC model of Huntington’s disease

Fluids and Barriers of the CNS, 2022
Huntington’s disease (HD) is an inherited neurodegenerative disease caused by expansion of cytosine–adenine–guanine (CAG) repeats in the huntingtin gene, which leads to neuronal loss and decline in cognitive and motor function.
Raleigh M. Linville, Renée F. Nerenberg, Gabrielle Grifno, Diego Arevalo, Zhaobin Guo, Peter C. Searson   +5 more
doaj   +1 more source

Juvenile‐Onset Huntington Disease Pathophysiology and Neurodevelopment: A Review [PDF]

Movement Disorders, 2021
ABSTRACTHuntington disease is an autosomal dominant inherited brain disorder that typically becomes manifest in adulthood. Juvenile‐onset Huntington disease refers to approximately 5% of patients with symptom onset before the age of 21 years. The causal factor is a pathologically expanded CAG repeat in the Huntingtin gene.
Bakels, H.S., Roos, R.A.C., Roon-Mom, W.M.C. van, Bot, S.T. de   +3 more
openaire   +3 more sources

The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s Disease

Brain Sciences, 2020
There is a known negative association between cytosine–adenine–guanine (CAG) repeat length and the age of motor onset (AMO) in adult-onset Huntington’s Disease (AOHD).
Jordan L. Schultz, Amelia D. Moser, Peg C. Nopoulos   +2 more
doaj   +1 more source

Short-interval observational data to inform clinical trial design in Huntington's disease. [PDF]

, 2015
OBJECTIVES: To evaluate candidate outcomes for disease-modifying trials in Huntington's disease (HD) over 6-month, 9-month and 15-month intervals, across multiple domains.
Roos, Raymund AC, Cole, James H, Sprengelmeyer, R, Cole, JH, Mueller, H.P., Malone, IB, Hobbs, Nicola Z., Durr, Alexandra, Johnson, H., Mueller, Hans-Peter, Roos, R.A.C., Scahill, R.I., Sprengelmeyer, Reiner, Haider, Salman, Frost, C, Hobbs, Nicola Z, Hobbs, N.Z., Farmer, RE, Farmer, R.E., Tabrizi, S.J., Cole, James H.; id_orcid, Durr, A, Tabrizi, SJ, Johnson, H, Sussmuth, S.D., Tabrizi, Sarah J., Farmer, Ruth E, Rees, Elin M, Scahill, Rachael I, Hobbs, NZ, Haider, S., Frost, Chris, Farmer, Ruth E., Mueller, Hans Peter, Landwehrmeyer, B., Cole, James H., Sprengelmeyer, R., Sussmuth, Sigurd D., Malone, Ian B, Malone, I.B., Landwehrmeyer, B, Durr, A., Rees, Elin M., Roos, RA, Scahill, Rachael I., Malone, Ian B., Rees, EM, Landwehrmeyer, Bernhard, Tabrizi, Sarah J, Frost, C., Sussmuth, Sigurd D, Mueller, HP, Scahill, RI, Sussmuth, SD, Cole, J.H., Roos, Raymund A.C., Sprengelmeyer, Reiner Heinrich, Haider, S, Johnson, Hans, Rees, E.M.   +59 more
core   +1 more source

Postnatal Foxp2 regulates early psychiatric-like phenotypes and associated molecular alterations in the R6/1 transgenic mouse model of Huntington's disease

Neurobiology of Disease, 2022
Huntington's Disease (HD) is a devastating disorder characterized by a triad of motor, psychiatric and cognitive manifestations. Psychiatric and emotional symptoms appear at early stages of the disease which are consistently described by patients and ...
Ened Rodríguez-Urgellés, Irene Rodríguez-Navarro, Iván Ballasch, Daniel del Toro, Ignacio del Castillo, Verónica Brito, Jordi Alberch, Albert Giralt   +7 more
doaj   +1 more source

Disease stage, but not sex, predicts depression and psychological distress in Huntington's disease. A European population study

, 2016
Objective: Depression and anxiety significantly affect morbidity in Huntington's disease. Mice.models of Huntington's disease have identified sex differences in mood-like behaviours that vary across disease lifespan, but this interaction has not ...
Shimozaki, Steve, Maltby, John, REGISTRY Investigators of the European Huntington's Disease Network, Cramp, Rebecca, Romano, Silvia., Dale, Maria, Rickards, Hugh   +6 more
core   +1 more source