Results 31 to 40 of about 91,965 (229)

Juvenile Huntington's Disease Skin Fibroblasts Respond with Elevated Parkin Level and Increased Proteasome Activity as a Potential Mechanism to Counterbalance the Pathological Consequences of Mutant Huntingtin Protein. [PDF]

Int J Mol Sci, 2019
Huntington’s disease (HD) is an inherited neurodegenerative disorder, caused by an abnormal polyglutamine (polyQ) expansion in the huntingtin protein (Htt).
Aladdin A, Király R, Boto P, Regdon Z, Tar K.   +4 more
europepmc   +2 more sources

XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease [PDF]

Clinical Genetics, 2003
JM Milunsky, Thomas A. Maher, BA Loose, Basil T. Darras, Masamichi Ito   +4 more
openalex   +2 more sources

Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son. [PDF]

J Huntingtons Dis, 2017
Background: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by a trinucleotide (CAG) repeat expansion in huntingtin (HTT) on chromosome 4.
Latimer CS, Flanagan ME, Cimino PJ, Jayadev S, Davis M, Hoffer ZS, Montine TJ, Gonzalez-Cuyar LF, Bird TD, Keene CD.   +9 more
europepmc   +2 more sources

Drug-Resistant Epilepsy in Children with Juvenile Huntington's Disease: A Challenging Case and Brief Review

Qatar medical journal, 2020
Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder with a progressive decline in cognitive, motor, and psychological function.
Abdulhafeez M. Khair, Jessica Kabrt, Stephen Falchek   +2 more
openalex   +2 more sources

Dysregulation of huntingtin interacting protein networks in human juvenile Huntington's disease brain

Journal of Huntington's Disease
Background Human Huntington's disease (HD) is a genetic neurodegenerative disorder caused by the mutant HTT gene containing CAG repeat expansions, resulting in motor dysfunction and behavioral deficits.
Sonia Podvin, Brin Rosenthal, Charles Mosier, Enlin Wei, Kathleen M. Fisch, Vivian Hook   +5 more
openalex   +2 more sources

Special Issue: Juvenile Onset Huntington’s Disease

Brain Sciences, 2020
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Peg C. Nopoulos
doaj   +1 more source

Clinical Manifestation of Juvenile and Pediatric HD Patients: A Retrospective Case Series

Brain Sciences, 2020
Background: Studies on the clinical manifestation and course of disease in children suffering from Huntington’s disease (HD) are rare. Case reports of juvenile HD (onset ≤ 20 years) describe heterogeneous motoric and non-motoric symptoms, often ...
Jannis Achenbach, Charlotte Thiels, Thomas Lücke, Carsten Saft   +3 more
doaj   +1 more source

Behavioral Deficits in Juvenile Onset Huntington’s Disease

Brain Sciences, 2020
Reports of behavioral disturbance in Juvenile-Onset Huntington’s Disease (JOHD) have been based primarily on qualitative caregiver reports or retrospective medical record reviews.
Kathleen E. Langbehn, Ashley M. Cochran, Ellen van der Plas, Amy L. Conrad, Eric Epping, Erin Martin, Patricia Espe-Pfeifer, Peg Nopoulos   +7 more
doaj   +1 more source

Autonomic Changes in Juvenile-Onset Huntington’s Disease

Brain Sciences, 2020
Patients with adult-onset Huntington’s Disease (AOHD) have been found to have dysfunction of the autonomic nervous system that is thought to be secondary to neurodegeneration causing dysfunction of the brain–heart axis. However, this relationship has not
Jordan L. Schultz, Peg C. Nopoulos
doaj   +1 more source

Juvenile Huntington’s disease

Анналы клинической и экспериментальной неврологии, 2017
Juvenile Huntingtons disease (JHD) manifests in 1st2nddecades of life and accounts for 29% of all cases ofHuntingtons disease; its pathogenic mechanisms are related togenetic anticipation and imprinting.
G. E. Rudenskaya, D. A. Savvin, V. P. Fedotov, S. A. Kurbatov, A. V. Polyakov, N. M. Galeeva   +5 more
doaj   +1 more source