Results 121 to 130 of about 50,686 (311)

Psychosocial Impacts of Huntington's Disease on Individuals, Relatives and Family Systems: A Thematic Synthesis

Clinical Genetics, EarlyView.
The psychosocial impacts of Huntington's disease include disintegration with society, emotional and psychological burdens, an interplay of extrinsic stressors and recalibration of the family system. This thematic synthesis highlights the need for holistic, systemic support to address these pervasive challenges for all members of the affected family ...
Paige Lindo, Tierney Tindall, Suzanne Buswell, Selina Lock, Sarah Gunn   +4 more
wiley   +1 more source

Dancing with disorder: chorea – an unusual and neglected manifestation of antiphospholipid syndrome

Lupus Science and Medicine
Objectives Chorea, characterised by involuntary, irregular movements, is a rare neurological manifestation of antiphospholipid syndrome (APS). The specific clinical features remain unclear.
Xiaofeng Zeng, Jiuliang Zhao, Mengtao Li, Yangzhong Zhou, Shikai Hu   +4 more
doaj   +1 more source

Huntington\u27s Disease--A Review [PDF]

, 2016
Huntington’s disease is degenerative and effects both cognitive and motor functioning, beginning in the 20s and continuing a decline for about two decades until death.
Dunn, Christen
core   +1 more source

FTH1‐Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia

Movement Disorders Clinical Practice, EarlyView.
Sayoni Roy Chowdhury, Sangeetha Yoganathan, Vivek Pai, Andrea LeBlanc‐Millar, Vann Chau, Roberto Mendoza‐Londono, Lucie Dupuis, Carolina Gorodetsky   +7 more
wiley   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

Our Experience with Outpatient Anesthesia in a Patient with Huntington Chorea [PDF]

, 2015
Özkan Önal, Aynur Kaplan, M Shaw, A Caro, J Gusella, N Wexler, P Conneally, P Macpherson, I Harper, I Macdonald, M Bloch, S Adam, A Fuller, D Davies, P Nagele, A Hammerle, M Rodrigo, M Johnson, N Heggie, J Stewart, C Cangemi, R Miller, Y Blanloeil, A Bigot, B Dixneuf, J Soar, K Matheson, Ams Lamont, W Gualandi, G Bonfati, Anurag Yadava, K Pradip, K Rajnish   +32 more
openalex   +1 more source

Genetic complexity in pediatric onset epilepsy‐movement disorder syndromes: Insights from a cohort of 97 subjects

Epilepsia, EarlyView.
Abstract Objective Conditions presenting with both epilepsy and movement disorders (EPIMDs) range from relatively benign cases to severe developmental encephalopathies. However, the full clinical and genetic spectrum still needs to be better defined.
Davide Caputo, Roberta Solazzi, Barbara Castellotti, Celeste Panteghini, Francesca Luisa Sciacca, Elisa Visani, Elena Freri, Francesca Ragona, Laura Canafoglia, Federica Zibordi, Giovanna Zorzi, Shari Gandelli, Cinzia Gellera, Silvana Franceschetti, Nardo Nardocci, Tiziana Granata   +15 more
wiley   +1 more source

Dopa‐Responsive Dystonia and Chorea as a Presenting Feature in Ataxia‐Telangiectasia [PDF]

, 2014
Sarah Thompson, Anand Iyer, Philip J. Byrd, Malcolm Taylor, Stefan Spinty   +4 more
openalex   +1 more source

The interacting etiologies of hippocampal sclerosis in epilepsy: A scoping review

Epilepsia, EarlyView.
Abstract According to the International League Against Epilepsy classification, mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE‐HS) is considered an epilepsy syndrome. Several etiologies may precede HS, but there is little overview in the literature about these etiologies.
Boris Deleu, Jules Jeuris, Wim Van Paesschen   +2 more
wiley   +1 more source

A Case of Non-Familial Degenerative Chorea [PDF]

, 1965
Fathy W. Tadros, E. M. D Nicola, I. Amin
openalex   +1 more source