Results 61 to 70 of about 6,618 (141)

Juvenile Huntington's disease confirmed by genetic examination in twins Doença de Huntington juvenil confirmada por exame genético em gêmeas

Arquivos de Neuro-Psiquiatria, 1999
Early-onset Huntington's disease (HD) occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, mini-mental state examination, blood laboratory exams ...
GILBERTO LEVY, MARIA EDUARDA NOBRE, VINICIUS T. CIMINI, SALMO RASKIN, ELIASZ ENGELHARDT   +4 more
doaj   +1 more source

A Scoping Review of the Lived Experiences of Individuals With Huntington's Disease, Their Informal Caregivers and Offspring

Journal of Advanced Nursing, Volume 82, Issue 2, Page 1105-1123, February 2026.
ABSTRACT Background Huntington's disease has a disruptive effect on entire families. While previous reviews have examined lived experiences of individuals with Huntington's Disease, their informal caregivers, or their offspring, none have provided a comprehensive overview that integrates these three perspectives. Design A scoping review. Aims Providing
Cathelijn Van Baar, Kristel Kalkers, Sascha Bolt, Raymund Roos, Robbert Gobbens   +4 more
wiley   +1 more source

Dysbiosis and Therapeutic Modulation of the Gut Microbiota in Multiple Sclerosis: A Narrative Review

Health Science Reports, Volume 8, Issue 12, December 2025.
ABSTRACT Background and Aims Multiple sclerosis (MS) is a persistent autoimmune disease that affects the central nervous system. The etiology of MS is complex, involving a variety of genetic and environmental factors. Mounting evidence suggests that dysbiosis significantly impacts the progression of MS mainly through its direct effects upon the immune ...
Mojtaba Memariani, Hamed Memariani
wiley   +1 more source

Voxel-based morphometry in the R6/2 transgenic mouse reveals differences between genotypes not seen with manual 2D morphometry

Neurobiology of Disease, 2009
The R6/2 mouse is the most common mouse model used for Huntington's disease (HD), a fatal, inherited neurodegenerative CAG disorder characterized by marked brain atrophy. We scanned 47 R6/2 transgenic and 42 wildtype (WT) ex vivo mouse brains at 18 weeks
S.J. Sawiak, N.I. Wood, G.B. Williams, A.J. Morton, T.A. Carpenter   +4 more
doaj   +1 more source

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients [PDF]

, 2009
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha ...
Ali-Pacha, L, Anheim, M, Arning, L, Barbot, C, Benhassine, T, Brice, A, Chabrol, B, Charles, P, Chbicheb, M, Coutinho, P, De Bleecker, Jan, Delaunoy, JP, Drouot, N, Durr, A, Fleury, M, Fritsch, M, Gazulla, J, Goizet, C, Hamri, A, Koenig, M, Koht, J, Le Ber, I, M'Zahem, A, Marelli, C, Monga, B, Mukhtar, M, Murphy, R, Pouget, J, Salih, M, Schols, L, Sequeiros, J, Synofzik, M, Tazir, M, Tranchant, C, Watanabe, M   +34 more
core   +1 more source

PRMT1 in Health and Disease: Emerging Perspectives From Molecular Mechanisms to Therapeutic Strategies

MedComm, Volume 6, Issue 12, December 2025.
Protein arginine methyltransferase 1 (PRMT1) is a pivotal enzyme that catalyzes the asymmetric dimethylation of arginine residues, thereby functioning as a critical epigenetic regulator of diverse biological processes such as gene expression, RNA splicing, and DNA repair.
Yanqun Luo, Ying Gao, Xiaoliang Deng, Lei Wang, Tao Wu   +4 more
wiley   +1 more source

Huntington's disease: a clinical review

Orphanet Journal of Rare Diseases, 2010
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
Roos Raymund AC
doaj   +1 more source

Physical exercise-induced adult neurogenesis: A good strategy to prevent cognitive decline in neurodegenerative diseases? [PDF]

, 2014
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Christie, BR, Gil-Mohapel, J, So, KF, Yau, SY   +3 more
core   +4 more sources

A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases

Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.
We analyze rare diseases with common presentations to reexamine genetic testing principles. In proposing criteria that emphasize patient capacity, test utility, and proportional invasiveness, we highlight gaps between guidelines and current practice. Coordinated, patient‐centered approaches are critical to maximize benefits, minimize harms, and inform ...
Rajeev Dutta, Cathy Duong, Virginia Kimonis, Changrui Xiao   +3 more
wiley   +1 more source

N-Acetylcysteine improves mitochondrial function and ameliorates behavioral deficits in the R6/1 mouse model of Huntington\u27s disease [PDF]

, 2015
Huntington\u27s disease (HD) is a neurodegenerative disorder, involving psychiatric, cognitive and motor symptoms, caused by a CAG-repeat expansion encoding an extended polyglutamine tract in the huntingtin protein.
Francis, P. S., Frazier, A. E., Gray, L. J., Hannan, A. J., McGee, S. L., Renoir, T., Smith, Z. M., Thorburn, D. R., Wright, D. J.   +8 more
core   +2 more sources