Results 1 to 10 of about 80,831 (209)

Juvenile Huntington’s Disease and Other PolyQ Diseases, Update on Neurodevelopmental Character and Comparative Bioinformatic Review of Transcriptomic and Proteomic Data [PDF]

Frontiers in Cell and Developmental Biology, 2021
Polyglutamine (PolyQ) diseases are neurodegenerative disorders caused by the CAG repeat expansion mutation in affected genes resulting in toxic proteins containing a long chain of glutamines.
Karolina Świtońska-Kurkowska, Bart Krist, Joanna Delimata, Maciej Figiel   +3 more
doaj   +5 more sources

Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children [PDF]

Brain Sciences, 2020
Objective: To investigate the reasons for the diagnostic delay of juvenile Huntington’s disease patients in the Netherlands. Methods: This study uses interpretative phenomenological analysis.
Mayke Oosterloo, Emilia K. Bijlsma, Christine de Die-Smulders, Raymund A.C. Roos   +3 more
doaj   +5 more sources

Juvenile Huntington’s disease: two case reports and a review of the literature [PDF]

Journal of Medical Case Reports, 2020
Background Huntington’s disease is a rare, autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Usually, the disease symptoms first appear around the age of 40, but in 5–10% of cases, they manifest ...
Sigita Lesinskienė, Darja Rojaka, Rūta Praninskienė, Aušra Morkūnienė, Aušra Matulevičienė, Algirdas Utkus   +5 more
doaj   +5 more sources

Effect of Immersive Virtual Reality by a Computer Assisted Rehabilitation Environment (CAREN) in Juvenile Huntington’s Disease: A Case Report [PDF]

Medicina, 2022
Various studies have proven the utility of immersive virtual reality (VR) as a complementary approach to conventional neurorehabilitation therapy for improving neuromuscular and cognitive outcomes in several neurological diseases.
Roberta Cellini, Giuseppe Paladina, Giacomo Mascaro, Maria Antonietta Lembo, Antonino Lombardo Facciale, Maria Cristina Ferrera, Bartolo Fonti, Luca Pergolizzi, Piero Buonasera, Placido Bramanti, Emanuela Mazzon   +10 more
doaj   +5 more sources

Juvenile Huntington’s disease masquerading as progressive myoclonus epilepsy [PDF]

Epilepsy & Behavior Reports, 2021
Juvenile Huntington’s disease (JHD) has an onset before 20 years of age, and is characterized by behavioural issues, epilepsy, rigidity, bradykinesia and dystonia. It contributes to 0.5–5% of all Huntington disease (HD) cases.
Bina Thakor, Sujit A. Jagtap, Aniruddha Joshi   +2 more
doaj   +4 more sources

Clinical Review of Juvenile Huntington's Disease. [PDF]

J Huntingtons Dis
Juvenile Huntington’s disease (JHD) is rare. In the first decade of life speech difficulties, rigidity, and dystonia are common clinical motor symptoms, whereas onset in the second decade motor symptoms may sometimes resemble adult-onset Huntington’s ...
Oosterloo M, Touze A, Byrne LM, Achenbach J, Aksoy H, Coleman A, Lammert D, Nance M, Nopoulos P, Reilmann R, Saft C, Santini H, Squitieri F, Tabrizi S, Burgunder JM, Quarrell O, Pediatric Huntington Disease Working Group of the European Huntington Disease Network.   +16 more
europepmc   +7 more sources

Tics as an initial manifestation of juvenile Huntington’s disease: case report and literature review [PDF]

BMC Neurology, 2017
Background Huntington’s disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical.
Shi-Shuang Cui, Ru-Jing Ren, Ying Wang, Gang Wang, Sheng-Di Chen   +4 more
doaj   +5 more sources

Juvenile Huntington's Disease: A Case Report and a Review of Diagnostic Challenges. [PDF]

Cureus, 2023
Juvenile Huntington’s Disease (JHD) is a rare variant of the hereditary neurodegenerative disorder Huntington’s disease (HD). Clinical symptoms in JHD are broad and non-specific, making the initial diagnosis difficult. In this report, we describe a young
Yu SY, Gough S, Niyibizi A, Sheikh M.
europepmc   +4 more sources

Cortical and Striatal Functional Connectivity in Juvenile-Onset Huntington’s Disease [PDF]

Brain Sciences
Background: Huntington’s disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the HTT gene, with a rare juvenile-onset form (JoHD) marked by early, rigid motor symptoms.
Amy Barry, Peg C. Nopoulos
doaj   +3 more sources

Managing juvenile Huntington's disease. [PDF]

Neurodegener Dis Manag, 2013
Huntington's disease (HD) is a well-recognized progressive neurodegenerative disorder that follows an autosomal dominant pattern of inheritance. Onset is insidious and can occur at almost any age, but most commonly the diagnosis is made between the ages ...
Quarrell OW, Nance MA, Nopoulos P, Paulsen JS, Smith JA, Squitieri F.   +5 more
europepmc   +4 more sources