Results 101 to 110 of about 127,473 (295)
NeurologíaResumen: Introducción: La enfermedad de Huntington (EH) es un trastorno neurodegenerativo y hereditario. Gracias al diagnóstico predictivo se han descrito características clínicas incipientes en la fase prodrómica.
F. Paz-Rodríguez +6 more
doaj +1 more source
The role of the genetic counsellor: a systematic review of research evidence [PDF]
, 2014 In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and ...
B Meiser +27 more
core +1 more source
Huntington’s disease: Managing neuropsychiatric symptoms in Huntington’s disease
Australasian Psychiatry, 2018 Objectives:This clinical update review focuses on the management of the neuropsychiatric manifestations of Huntington’s disease (HD). The review highlights current issues regarding pharmacological and non-pharmacological treatment, putative therapeutics and recent relevant research findings in this area.Conclusions:Neuropsychiatric symptoms may precede
Samantha M Loi +3 more
openaire +3 more sources
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease [PDF]
, 2016 Huntington disease-like 2 (HDL2) and Huntington disease (HD) are adult-onset neurodegenerative diseases characterized by movement disorders, psychiatric disturbances and cognitive decline.
Cho, Richard W. +2 more
core +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source
Late onset of Huntington's disease [PDF]
, 1985 Twenty-five patients with late-onset Huntington's disease were studied; motor impairment appeared at age 50 years or later. The average age at onset of chorea was 57.5 years, with an average age at diagnosis of 63.1 years.
Myers, R. H. +7 more
core
Systematic interaction network filtering identifies CRMP1 as a novel suppressor of huntingtin misfolding and neurotoxicity [PDF]
, 2015 Assemblies of huntingtin (HTT) fragments with expanded polyglutamine (polyQ) tracts are a pathological hallmark of Huntington's disease (HD). The molecular mechanisms by which these structures are formed and cause neuronal dysfunction and toxicity are ...
Andrade-Navarro, Miguel A. +24 more
core +2 more sources
Pediatric Neurology Briefs, 1993 The clinical manifestations, differential diagnosis, and treatment of benign hereditary chorea (BHC) are reviewed from the Indiana University and University of Minnesota Medical Schools.
J Gordon Millichap
doaj +1 more source
Mutant huntingtin enhances activation of dendritic Kv4 K+ channels in striatal spiny projection neurons [PDF]
, 2019 Huntington\u27s disease (HD) is initially characterized by an inability to suppress unwanted movements, a deficit attributable to impaired synaptic activation of striatal indirect pathway spiny projection neurons (iSPNs).
Carrillo-Reid, Luis +13 more
core +1 more source