Results 11 to 20 of about 2,298 (96)

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

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

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
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Juvenile Huntington's disease: a clinical case from a pediatric's practice

Клинический разбор в общей медицине, 2023
Background. Huntington's disease (Hd) is a hereditary neurodegenerative disease with an autosomal dominant type of inheritance and manifested by motor, behavioral and mental disorders.
Emilia E. Alieva, Polina A. Klishina, Bella O. Matsukatova, Alfiya I. Aminova   +3 more
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Generation of an induced pluripotent stem cell line from a Huntington’s disease patient with a long HTT-PolyQ sequence

Stem Cell Research, 2023
Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by an abnormal length of CAG repeats in the gene HTT, leading to an elongated poly-glutamine (poly-Q) sequence in huntingtin (HTT).
Duncan C. Miller, Pawel Lisowski, Carolin Genehr, Erich E. Wanker, Josef Priller, Alessandro Prigione, Sebastian Diecke   +6 more
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Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease [PDF]

Journal of Movement Disorders, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene.
Dong-Seok Oh, Eun-Seon Park, Seong-Min Choi, Byeong-Chae Kim, Myeong-Kyu Kim, Ki-Hyun Cho   +5 more
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Juvenile Huntington’s disease masquerading as progressive myoclonus epilepsy

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

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
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Dominant-Negative Effects of Adult-Onset Huntingtin Mutations Alter the Division of Human Embryonic Stem Cells-Derived Neural Cells. [PDF]

PLoS ONE, 2016
Mutations of the huntingtin protein (HTT) gene underlie both adult-onset and juvenile forms of Huntington's disease (HD). HTT modulates mitotic spindle orientation and cell fate in mouse cortical progenitors from the ventricular zone.
Carla Lopes, Sophie Aubert, Fany Bourgois-Rocha, Monia Barnat, Ana Cristina Rego, Nicole Déglon, Anselme L Perrier, Sandrine Humbert   +7 more
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Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease

Stem Cell Research, 2018
Juvenile Onset Huntington's Disease (JOHD) is a rare variant of HD withage of onset ≤20 years, accounting for 3–10% of all HD patients. The rarity occurrence of JOHD cases, who severely progress towards mental and physical disability with atypical ...
Giovannina Rotundo, Eris Bidollari, Daniela Ferrari, Iolanda Spasari, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Simone Migliore, Ferdinando Squitieri, Angelo Luigi Vescovi, Jessica Rosati   +12 more
doaj   +1 more source