Results 41 to 50 of about 2,216 (191)

Pediatric Wilson Disease in Sudan: A Rare Case, Sudan Conflict and Diagnostic Challenges

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Wilson disease is rarely reported among African children. Wilson disease is due to a mutation in ATP7B on an autosomal recessive pattern, which causes defective copper excretion and copper accumulation in tissues such as liver and brain.
Amjed Abdu Ali Mohammed, Anaheed Alzubair Mohammed HabeebAllah, Sudad salahaldeen Hassan Mohammed, Aprar Kamal Mohammed Ali Almamoon, Mehad Mortada BadrAlden Ahmed, Arafa Mubarak Abotalib Aref, Fatima Bashir Omer Bashir, Tarig Mohamed Nourallah Altegani, Ahmed Alshafei Elmahi Ahmed   +8 more
wiley   +1 more source

Magnetic resonance imaging pontine signal abnormality in neurological Wilson disease: A case report

Clinical Case Reports, 2023
Key Clinical Message WD is diagnosed with the help of a brain MRI, which frequently reveals hyperintensities in the lentiform nucleus. But occasionally, high signals can be seen in the pons, thalamus, and midbrain.
Bikram Prasad Gajurel, Susmin Karki, Asmita Parajuli, Sunil Babu Khanal   +3 more
doaj   +1 more source

Exploring and Targeting the Connection of Iron and Copper Homeostasis to Neurodegenerative Diseases

MedComm, Volume 7, Issue 6, June 2026.
Iron and copper dyshomeostasis, along with their interactions with key intrinsically disordered proteins (e.g., Aβ, tau, α‐synuclein) have a strong implication in the onset and progression of neurodegenerative diseases, including Alzheimer's disease (AD), Parkinson's disease (PD), Prion diseases (PrDs), Huntington's disease (HD), Wilson's disease (WD),
Xin Liu, Lin Jia, Kerong Wu, Mo Chen, Jichao Sun, Chuanbin Yang, Chengchao Xu, Jie Sun, Jigang Wang, Lingyun Dai   +9 more
wiley   +1 more source

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

Capturing Behavioral Symptoms in Huntington's Disease Using the Huntington's Disease‐Behavioral Questionnaire

Movement Disorders Clinical Practice, Volume 13, Issue 6, Page 1513-1517, June 2026.
Abstract Background The Huntington's Disease Behavioral Questionnaire (HD‐BQ) captures behavioral symptoms arising from cognitive, psychiatric, and functional domains. Recognizing the high prevalence of anosognosia in HD, the HD‐BQ incorporates patient‐ and companion‐reported versions.
Siena Rigatuso, Krisha Bagga, Shelby Hughes, Japleen Kaur, Paul E. Gilbert, Jody Corey‐Bloom   +5 more
wiley   +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

An Open‐Label Phase 1b Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Clinical Activity of ANX005 in Patients with Huntington's Disease

Movement Disorders, Volume 41, Issue 6, Page 1492-1501, June 2026.
Complement activation is implicated in Huntington's disease; ANX005 is a potent inhibitor of component C1q. ANX005 exhibited a generally manageable safety profile with rapid reduction in C1q in the cerebrospinal fluid. Functional ability on composite Unified Huntington's Disease Rating Scale and total functional capacity was maintained, with potential ...
Rajeev Kumar, Pinky Agarwal, Karen Anderson, Daniel Claassen, Marissa Dean, Andrew Duker, Burton Scott, Benjamin Hoehn, Ann Mongan, Ping Lin, Ellen Cahir‐McFarland, Lori Taylor, Glenn Morrison, Ted Yednock, Sanjay Keswani, Henk‐Andre Kroon   +15 more
wiley   +1 more source

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

Development and Validation of a Brief Fall Questionnaire (FALL‐HD) for Patients with Huntington's Disease

Movement Disorders Clinical Practice, Volume 13, Issue 4, Page 949-955, April 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. Falls represent the leading cause of nursing home placement in HD.
Japleen Kaur, Deng‐Yuan Liou, Krisha Bagga, Nadeen Youhanan, Andrew Hall, Paul E. Gilbert, Daniel J. Goble, Jody Corey‐Bloom   +7 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