Results 51 to 60 of about 2,427 (143)

The psychological experience of living at risk of an autosomal dominant neurological condition: A scoping review

Alzheimer's &Dementia: Behavior &Socioeconomics of Aging, Volume 2, Issue 2, June 2026.
Abstract As our understanding of genetic risk and the availability of genetic testing increases, consideration of the psychological impact of living at risk for an autosomal dominant neurological condition (ADNC) becomes more pertinent. A systematic search of PsycINFO, MEDLINE, and Web of Science was run to identify studies exploring the psychological ...
Rhianna Brien, Simon Mead, Marc Tibber, Edgar Chan   +3 more
wiley   +1 more source

Modulation of the Stress Granule Component Carhsp1 Mitigates Disease‐Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models

Movement Disorders, Volume 41, Issue 6, Page 1516-1527, June 2026.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) neurogenerative disorder that results from CAG trinucleotide repeat expansions in the ATXN3 gene, leading to toxic protein aggregate formation and cellular pathway dysfunction.
Tiago Moreira‐Gomes, Adriana Marcelo, Ana Teresa Rajado, Rafael G. Costa, Ricardo Afonso‐Reis, Cristiana R. Madeira, Inês T. Afonso, David V.C. Brito, Adriana A. Vaz, Clévio Nóbrega   +9 more
wiley   +1 more source

Three Generations of Huntington’s Disease in a Family-Diagnosed after Juvenile Presentation in an Adolescent: A Case Report

Indian Pediatrics Case Reports
Background: Huntington’s disease (HD) is a neurodegenerative disorder characterized by dominant inheritance, choreoathetosis, cognitive decline, and psychiatric disturbances.
Keerthana Muralidhar, Muganagowda Patil
doaj   +1 more source

The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients

Scientific Reports, 2017
We have previously shown that exon 1 of the huntingtin gene does not always splice to exon 2 resulting in the production of a small polyadenylated mRNA (HTTexon1) that encodes the highly pathogenic exon 1 HTT protein.
Andreas Neueder, Christian Landles, Rhia Ghosh, David Howland, Richard H. Myers, Richard L. M. Faull, Sarah J. Tabrizi, Gillian P. Bates   +7 more
doaj   +1 more source

Dehnel's Phenomenon in Mammals

Mammal Review, Volume 56, Issue 2, June 2026.
Some small mammals, which remain active year‐round, undergo reversible reductions in body size, braincase height, and the mass of internal organs, including the brain, from summer to winter. It is called Dehnel's phenomenon. In this review, we summarise knowledge of the mechanisms, adaptive value, and genetic basis of the phenomenon, and show how new ...
Jan R. E. Taylor, Cecilia Baldoni, Dina K. N. Dechmann   +2 more
wiley   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Neutral theory: applicability and neutrality of clinical study endpoints where a disease-specific instrument is available

BMC Medical Research Methodology, 2023
Background There is a pressing need to improve the accuracy of rare disease clinical study endpoints. Neutral theory, first described here, can be used to assess the accuracy of endpoints and improve their selection in rare disease clinical studies ...
Ravi Jandhyala
doaj   +1 more source

Corticostriatal maldevelopment in the R6/2 mouse model of juvenile Huntington's disease

Neurobiology of Disease
There is a growing consensus that brain development in Huntington's disease (HD) is abnormal, leading to the idea that HD is not only a neurodegenerative but also a neurodevelopmental disorder.
Carlos Cepeda, Sandra M. Holley, Joshua Barry, Katerina D. Oikonomou, Vannah-Wila Yazon, Allison Peng, Deneen Argueta, Michael S. Levine   +7 more
doaj   +1 more source

Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat

Brazilian Journal of Medical and Biological Research, 2006
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that affects the striatum most severely. However, except for juvenile forms, relative preservation of the cerebellum has been reported.
H.H. Ruocco, I. Lopes-Cendes, L.M. Li, M. Santos-Silva, F. Cendes   +4 more
doaj   +1 more source

Current Pharmacological Management in Juvenile Huntington's Disease.

PLoS Curr, 2012
The clinical presentation of Juvenile Huntington's Disease (JHD) can be very different from adult-onset HD with little evidence to guide symptomatic management.To survey the current use of pharmacological treatments for JHD.Patients were identified through the HD Association, Hospital Doctors and the European Huntington's Disease Network REGISTRY study.
Robertson L, Santini H, O'Donovan KL, Squitieri F, Barker RA, Rakowicz M, Landwehrmeyer GB, Quarrell O.   +7 more
europepmc   +3 more sources