Results 21 to 30 of about 91,965 (229)

The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across Europe [PDF]

European Journal of Human Genetics, 2013
The study reported here presents a detailed description of what it is like to parent a child with juvenile Huntington’s disease in families across four European countries. Its primary aim was to develop and extend findings from a previous UK study.
Aad Tibben, Bernhard Landwehrmeyer, C Dancyger, CE Levers, Christine Eiser, EA Earle, EA Earle, ET Gendlin, Ferdinando Squitieri, G Bruyn, G Nicolas, G Ronen, Helen Santini, HM Brewer, HM Brewer, HM Brewer, HM Brewer, I Epstein, JA Smith, JA Smith, JA Smith, Jonathan A Smith, Katie Lee Weille, M Dixon-Woods, M Orth, M Rawlins, MA Nance, Maria Rakowicz, Marie-Louise Goller, Martina Petrollini, Matteo Paduanello, MJ Novak, O Quarrell, Oliver Quarrell, P Lagerlove, P Ribbai, PJ Morrison, RA Barker, S Michie, T Hoppitt, Virginia Eatough, Wioletta Krysa, ‘Annunziata’ de Nicola   +42 more
core   +2 more sources

Patterns of neural activity and clinical outcomes in a juvenile Huntington's Disease patient undergoing Deep Brain Stimulation of the subthalamic nucleus

Deep Brain Stimulation, 2023
Ahmet Kaymak, Matteo Vissani, Matteo Lenge, Federico Melani, Edoardo Fino, Pietro Cappelletto, Germana Tuccinardi, Michele Alessandro Cavallo, Flavio Giordano, Alberto Mazzoni   +9 more
openalex   +2 more sources

Iloperidone treatment mitigates the Juvenile Huntington's Disease phenotype possibly via Sigma-1 Receptor Modulation

The FEBS Journal, EarlyView.
We investigated the potential of iloperidone as an activator of Sigma‐1 receptor (S1R) neuroprotective function in juvenile Huntington's disease (jHD). We tested iloperidone on cortical neurons differentiated from patient‐derived iPSCs, demonstrating that it acts as a S1R agonist, decreasing apoptosis, huntingtin aggregation, and oxidative stress ...
Mario Frezzini
wiley   +4 more sources

Clinical and genetic analysis of juvenile-onset Huntington's disease: 10 cases report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Objective To investigate the clinical features and dynamic mutation of 10 cases with juvenile-onset Huntington's disease (HD). Methods The cytosine-adenine-guanine (CAG) repeats of IT15 gene were detected by polymerase chain reaction (PCR) and capillary
Ying HAO, Yuan-yuan CHEN, Jin ZHANG, Hui-zi MA, Wei-hong GU   +4 more
doaj   +1 more source

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   +2 more sources

Economic Cost of Current and Alternative Models of Multidisciplinary Care of Juvenile‐Onset Huntington's Disease [PDF]

Movement Disorders Clinical Practice, Volume 13, Issue 4, Page 964-972, April 2026.
Abstract Background Multidisciplinary care has been advocated for Juvenile‐onset Huntington's Disease but there has been no detailed analysis of this. Objectives To evaluate the current economic costs of providing health care for patients with Juvenile‐onset Huntington's disease (JoHD) and to model the effects and economic costs of providing a ...
Tracey Young, Penny A. Curtis, Jill Thompson, Aileen K. Ho, Helen Santini, Oliver Quarrell   +5 more
openalex   +2 more sources

Intrathecal baclofen pump for severe hypertonia in a patient with juvenile Huntington's disease: illustrative case. [PDF]

J Neurosurg Case Lessons
BACKGROUND While the symptoms of Huntington’s disease (HD) typically first appear around the age of 40 years, 5%–10% of patients experience symptoms before the age of 21 years, in which case it is classified as juvenile Huntington’s disease (JHD).
Winston GM, Nilchian P, Greenfield JP, Jones D.   +3 more
europepmc   +2 more sources

Managing juvenile Huntington's disease. [PDF]

Neurodegener Dis Manag, 2013
SUMMARY Huntington’s disease (HD) is a well-recognized progressive neurodegenerative disorder that follows an autosomal dominant pattern of inheritance.
Quarrell OW, Nance MA, Nopoulos P, Paulsen JS, Smith JA, Squitieri F.   +5 more
europepmc   +2 more sources

Juvenile Huntington's disease: a population-based study using the General Practice Research Database [PDF]

BMJ Open, 2013
Background The juvenile form of Huntington's disease (HD) is a rare disorder. There are no population-based estimates of either its incidence or prevalence in any population in the world.
Ian Douglas, Stephen Evans, M. D. Rawlins, Liam Smeeth, Sarah J. Tabrizi, Nancy S. Wexler   +5 more
openalex   +2 more sources

The Prevalence of Juvenile Huntington's Disease: A Review of the Literature and Meta-Analysis

PLOS Currents, 2012
Juvenile Huntington’s disease (JHD) is usually defined as Huntington's disease with an onset ≤ 20 years. The proportion of JHD cases reported in studies of Huntington’s disease (HD) varies.
Oliver Quarrell, Kirsty O’Donovan, Oliver Bandmann, Mark Strong   +3 more
openalex   +3 more sources