Results 41 to 50 of about 5,067,029 (185)
Evaluation of longitudinal 12 and 24 month cognitive outcomes in premanifest and early Huntington's disease. [PDF]
, 2012 BACKGROUND: Deterioration of cognitive functioning is a debilitating symptom in many neurodegenerative diseases, such as Huntington's disease (HD). To date, there are no effective treatments for the cognitive problems associated with HD.
Stout, J.C. +33 more
core +1 more source
Stem Cell Research, 2018 Juvenile Onset Huntington's Disease (JOHD) is a rare variant of HD withage of onset ≤20 years, accounting for 3–10% of all HD patients. The rarity occurrence of JOHD cases, who severely progress towards mental and physical disability with atypical ...
Giovannina Rotundo +12 more
doaj +1 more source
Novel methods and therapeutic approaches of diagnosis and treatment of Huntington's disease [PDF]
, 2008 Huntington’s Disease is a neurodegenerative disorder characterized by motor dysfunction, emotional disturbance, dementia and weight loss. The disorder is caused by an autosomal dominant expansion of a CAG repeat encoding for a polyglutamine stretch in ...
Weiss, Andreas
core +1 more source
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 +4 more
doaj +1 more source
Genome Biology, 2021 Background Many neurodegenerative diseases develop only later in life, when cells in the nervous system lose their structure or function. In many forms of neurodegenerative diseases, this late-onset phenomenon remains largely unexplained.
Matan Sorek +17 more
doaj +1 more source
Innovative approaches to monitor mutant huntingtin and to facilitate its degradation in Huntington's disease models [PDF]
, 2011 Huntington’s disease (HD) is a dominant genetic neurodegenerative disease caused by a mutation in the exon 1 of the huntingtin gene. The clinical symptoms, such as motor disturbances (chorea), cognitive decline and psychiatric impairments are usually ...
Baldo, Barbara
core +1 more source
Clinical Manifestation of Juvenile and Pediatric HD Patients: A Retrospective Case Series
Brain Sciences, 2020 Background: Studies on the clinical manifestation and course of disease in children suffering from Huntington’s disease (HD) are rare. Case reports of juvenile HD (onset ≤ 20 years) describe heterogeneous motoric and non-motoric symptoms, often ...
Jannis Achenbach +3 more
doaj +1 more source
Movement Disorders in Developmental and Epileptic Encephalopathies
Movement Disorders Clinical Practice, EarlyView.Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad +2 more
wiley +1 more source
Frontiers in Cell and Developmental Biology, 2021 Huntington's disease (HD) is a severe autosomal-dominant neurodegenerative disorder caused by a mutation within a gene, encoding huntingtin protein. Here we have used the induced pluripotent stem cell technology to produce patient-specific terminally ...
Vladimir A. Vigont +17 more
doaj +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider +3 more
wiley +1 more source