Results 121 to 130 of about 2,436 (142)
Surface-Engineered Precision Nano-Systems for Targeted Treatment of Huntington's Disease: A Review of Recent Advancements. [PDF]
Int J NanomedicineZhang J, Nie L, Ma J, Wang X.
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Presentation Modes, Anticipation, and Penetrance: A Case Series of Huntington's Disease. [PDF]
CureusSumaiya T, Sultana R, Mridul MH.
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Expression of polyglutamine repeats at the pathogenic threshold modestly enhances tau neurotoxicity and protein accumulation in <i>C. elegans</i>. [PDF]
MicroPubl BiolHincks JC, Stair JG, Liachko NF.
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Journal of Paediatrics and Child Health, 2006
Abstract: Huntington disease (HD) is a dominantly inherited neurodegenerative disorder related to expansion of a triplet repeat sequence in the huntington gene on chromosome 4. Adult HD usually presents with chorea and personality changes. Juvenile HD is far less common and presents with parkinsonism, dystonia and seizures.
Nimeshan, Geevasinga +3 more
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Abstract: Huntington disease (HD) is a dominantly inherited neurodegenerative disorder related to expansion of a triplet repeat sequence in the huntington gene on chromosome 4. Adult HD usually presents with chorea and personality changes. Juvenile HD is far less common and presents with parkinsonism, dystonia and seizures.
Nimeshan, Geevasinga +3 more
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Human Genetics, 1986
Of 195 cases of juvenile Huntington disease gathered from case descriptions, the sex, age at onset, duration of disease, clinical type, sex of the affected parent, as well as sex, mean age at onset and at death of adult cases in the same pedigrees were noted when available, and the data were investigated for evidence of relationships between different ...
J G, van Dijk +3 more
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Of 195 cases of juvenile Huntington disease gathered from case descriptions, the sex, age at onset, duration of disease, clinical type, sex of the affected parent, as well as sex, mean age at onset and at death of adult cases in the same pedigrees were noted when available, and the data were investigated for evidence of relationships between different ...
J G, van Dijk +3 more
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Anaesthesia and juvenile Huntington's disease
Pediatric Anesthesia, 2000SummaryJuvenile Huntington's Disease (JHD) is an involuntary movement disorder that comprises both neurological and psychiatric symptoms. Whilst it has many similarities to Huntington's Disease, it is regarded as a separate clinical entity. The anaesthetic plan should be based on careful assessment of the important issues, including the risk of ...
K, Gupta, C P, Leng
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Juvenile Huntington disease in the Netherlands
Pediatric Neurology, 1997Juvenile Huntington disease (JHD) patients are distinguished from adult patients by an age at onset of less than 20 years. Investigating patients in our own database, we examined the proposition derived from studies in world literature that JHD should not be viewed as a separate clinical entity but rather as a manifestation of the rigid variant of the ...
S, Siesling +2 more
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Huntington's disease of early onset or juvenile Huntington's disease
Hospital Medicine, 2003The presentation of juvenile Huntington's disease can cause diagnostic difficulties. The genetics and pathogenesis of the condition are discussed. The diagnosis will depend on the symptoms raising suspicions and the exclusion of other disorders, especially by genetic studies.
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Irish Journal of Psychological Medicine, 1991
AbstractA significant minority of cases of Huntington's disease commence before the age of 20 years and these juvenile cases are more likely to demonstrate paternal transmission and a clinical picture dominated by rigidity. Genetic research and positron emission tomography may make early diagnosis easier but predictive testing in childhood is replete ...
Brian O'Shea, Jane Falvey
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AbstractA significant minority of cases of Huntington's disease commence before the age of 20 years and these juvenile cases are more likely to demonstrate paternal transmission and a clinical picture dominated by rigidity. Genetic research and positron emission tomography may make early diagnosis easier but predictive testing in childhood is replete ...
Brian O'Shea, Jane Falvey
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2012
Huntington’s disease (HD) is a rare autosomal dominant, neurodegenerative disorder caused by a CAG DNA triplet repeat expansion in the huntingtin gene (see Chap. 66). Onset is usually in adulthood but 1% of cases occur before age 20 and are referred to as juvenile HD (JHD).
Roongroj Bhidayasiri, Daniel Tarsy
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Huntington’s disease (HD) is a rare autosomal dominant, neurodegenerative disorder caused by a CAG DNA triplet repeat expansion in the huntingtin gene (see Chap. 66). Onset is usually in adulthood but 1% of cases occur before age 20 and are referred to as juvenile HD (JHD).
Roongroj Bhidayasiri, Daniel Tarsy
openaire +2 more sources