Results 51 to 60 of about 2,772 (216)

Wilson's disease: A case report with primary psychiatric presentation, a reason to investigate

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2018
Wilson's disease (WD) or hepatolenticular degeneration is a rare genetic disorder involving excessive copper accumulation in the liver and brain. It can present with a myriad of presentations, ranging from neurological, motor, hepatic, and psychiatric. A
Sriniwas Gupta, Era Dutta
doaj   +1 more source

Wilson’s disease [PDF]

Romanian Journal of Neurology, 2011
A disturbance of copper metabolism causes hepatolenticular degeneration (Wilson’s disease), an autosomal recessive disorder whose genetic locus lies on the long arm of chromosome 13.
A. Hancu, C. Mihai, D. Zguma, A. Docu Axelerad, E. Dumitru, M. Kaivanifard   +5 more
doaj   +1 more source

Genetic variants underlying precancerous conditions of hepatocellular carcinoma

International Journal of Cancer, Volume 158, Issue 3, Page 488-502, 1 February 2026.
Abstract Hepatocellular carcinoma (HCC) is the most common form of liver cancer, accounting for 80% of cases worldwide. While chronic hepatitis B and C infections remain primary risk factors, emerging evidence highlights the increasing contributions of metabolic dysfunction‐associated steatotic liver disease (MASLD) and alcohol‐associated liver disease
Jonathan Jaime G. Guerrero, Paolo C. Encarnacion, Mark Angelo S. del Rosario, Matthew Aldren S. Ora, Jiayan Zhou, Kin Israel Notarte, Wan‐Chun Li, Ching‐Wen Chang   +7 more
wiley   +1 more source

Wilson's disease: A patient undiagnosed for 18 years [PDF]

, 2006
Wilson's disease, an autosomal recessive disorder of copper metabolism, is the most common inherited hepatic disease in Hong Kong. Diagnosis is based on the presence of Kayser-Fleischer rings, typical neurological symptoms, and/or a low serum ...
Fan, ST, Lam, CW, Liu, CL, Mak, CM, Tam, S   +4 more
core  

The impact of neurological disorders on healthcare for children and young people [PDF]

, 2018
Introduction Neurological conditions are a major and increasing cause of hospitalisation among children and young people, but little is known about the impact of neurological conditions on hospital services in England, nor the factors that influence ...
Childs, Anne-Marie, Fraser, Lorna Katharine, Jarvis, Stuart William, Livingston, John   +3 more
core   +2 more sources

Acute-Onset Optic Neuropathy in Wilson’s Disease

Case Reports in Ophthalmology, 2019
Wilson’s disease (WD), also known as hepatolenticular degeneration, is a rare autosomal recessive condition of excess copper accumulation that is most commonly associated with hepatic, neurologic, psychiatric, and ocular manifestations.
Liyung Tiffany Chou, Derek Horkey, Mark Slabaugh   +2 more
doaj   +1 more source

Using a Brief Body Sway Assessment Device to Track Balance Differences across the Huntington's Disease Integrated Staging System Spectrum

Movement Disorders Clinical Practice, Volume 13, Issue 2, Page 475-481, February 2026.
Abstract Background Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin gene on chromosome 4, leading to progressive cognitive decline, motor impairment, and functional disability. Although balance impairment is recognized in HD, its onset and evolution with disease stage remain poorly ...
Japleen Kaur, Nadeen Youhanan, Krisha Bagga, Andrew Hall, Paul E. Gilbert, Daniel J. Goble, Jody Corey‐Bloom   +6 more
wiley   +1 more source

Wilson disease – a case report [PDF]

Romanian Journal of Neurology, 2018
Wilson disease (hepatolenticular degeneration) is due to a genetic abnormality inherited in an autosomal recessive manner that leads to impairment of cellular copper transport.
Simina Cozma , Andreea Paraschiv, Vitalie Vacaras   +2 more
doaj   +1 more source

Interplay Between Sex and Cytosine‐Adenine‐Guanine‐Age Product Score in Huntington's Disease: Clinical and Neuroimaging Perspectives

Movement Disorders, Volume 41, Issue 2, Page 489-499, February 2026.
Abstract Background Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a cytosine‐adenine‐guanine (CAG) repeat expansion in the huntingtin gene. The disease exhibits sex‐related differences in symptomatology and disease progression, but the effect on brain structural biomarkers and the interaction between sex and CAG‐age ...
Jingwen Yao, Grayson Feng, Guowen Shao, Zexi Wang, Adys Mendizabal, Donatello Telesca, Kaiying Fang, Lola Ibragimova, Juwairia Shoaib, Melanie A. Morrison, Janine M. Lupo   +10 more
wiley   +1 more source

Transcranial Ultrasound Stimulation of Internal Globus Pallidus Region and Motor Cortex in Parkinson's Disease

Movement Disorders, Volume 41, Issue 2, Page 416-425, February 2026.
Abstract Background Many patients with Parkinson's disease (PD) have motor impairments despite dopaminergic therapy. Low‐intensity transcranial ultrasound stimulation (TUS) is a non‐invasive neuromodulation method with high spatial precision. The effects of motor cortex (M1) and internal globus pallidus (GPi) TUS on PD motor signs and cortical ...
Yi‐Ying Lin, Nasem Raies, Talyta Grippe, Carolyn A. Gunraj, Can Sarica, Utpal Kumar Saha, Amitabh Bhattacharya, Ghazaleh Darmani, Robert Chen   +8 more
wiley   +1 more source