Results 21 to 30 of about 2,958 (128)
Pediatric Neurology Briefs, 1989 The positron-emission tomography (PET) findings in a seven year old girl with the juvenile form of Huntington's disease are described from the Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal, Canada.
J Gordon Millichap
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Stem Cell Research, 2023 Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by an abnormal length of CAG repeats in the gene HTT, leading to an elongated poly-glutamine (poly-Q) sequence in huntingtin (HTT).
Duncan C. Miller +6 more
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Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease [PDF]
Journal of Movement Disorders, 2011 Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene.
Dong-Seok Oh +5 more
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Fluids and Barriers of the CNS, 2022 Huntington’s disease (HD) is an inherited neurodegenerative disease caused by expansion of cytosine–adenine–guanine (CAG) repeats in the huntingtin gene, which leads to neuronal loss and decline in cognitive and motor function.
Raleigh M. Linville +5 more
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Neurobiology of Disease, 2022 Huntington's Disease (HD) is a devastating disorder characterized by a triad of motor, psychiatric and cognitive manifestations. Psychiatric and emotional symptoms appear at early stages of the disease which are consistently described by patients and ...
Ened Rodríguez-Urgellés +7 more
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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
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Neurobiology of Disease, 2012 The pathophysiology of Huntington's disease (HD) is primarily associated with striatal degeneration and a number of behavioral symptoms such as involuntary movements, cognitive decline, psychiatric disorders, and in the most juvenile-onset cases with ...
Michele Pignatelli +3 more
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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
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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
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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
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