Corpus ID: 193741505

Juvenilní forma Huntingtonovy nemoci

  title={Juveniln{\'i} forma Huntingtonovy nemoci},
  author={D. Roth},
Huntingtonova nemoc (HN) je autozomalně dominantně dědicne neurodegenerativni onemocněni s výskytem cca 1 : 10–15 000. Podstatou mutace je zmnoženi (expanze) poctu CAG tripletů v prvnim exonu. Při 40 a vice tripletech jedinec onemocni HN. Typický věk nastupu prvnich přiznaků u klasicke – adultni formy HN je mezi 35. – 50. rokem věku. Podstatně vzacněji (cca 5 % vsech připadů) se HN manifestuje v dětskem ci adolescentnim věku (juvenilni forma HN – JHN – arbitrarně definovana jako nemoc s… Expand


CAG‐repeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches
  • D. Langbehn, M. Hayden, Jane S. Paulsen
  • Psychology, Medicine
  • American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  • 2010
It is argued that unrepresentative sampling and failure to use appropriate survival analysis methodology may have substantially biased much of the literature, and why the survival analysis perspective is necessary if any such model is to undergo prospective validation. Expand
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients.
Patients with JHD started showing disease symptoms through nonspecific features, mostly psychiatric and cognitive difficulties, which led to misdiagnosis or diagnosis delay, especially in cases without a familial history of HD. Expand
Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.
It is demonstrated that the sex of transmitting parent is the major influence on trinucleotide expansion and clinical features in juvenile Huntington disease. Expand
Molecular analysis and clinical correlations of the Huntington's disease mutation
The findings suggest that molecular analysis will be an accurate and specific diagnostic test for HD and valuable in presymptomatic detection in individuals at risk. Expand
Huntington disease in children: genotype-phenotype correlation.
Large CAG expansions with intergenerational instability were identified, and in one case the child's allele was almost three times larger than the allele of the asymptomatic transmitting father, a situation reported only once before. Expand
Juvenile onset Huntington's disease--clinical and research perspectives.
  • M. Nance, R. Myers
  • Biology, Medicine
  • Mental retardation and developmental disabilities research reviews
  • 2001
Clumps of protein, termed inclusion bodies, which stain positive for huntingtin and ubiquitin, are found primarily in the nucleus but also in the cytoplasm and axons in HD neurons and research suggests that these inclusion bodies sequester a deleterious protein fragment and prolong cell life during the degenerative process of the disease. Expand
The Frequency of Inherited Disorders Database: Prevalence of Huntington Disease
A database of the frequency of human inherited disorders is being established for use in a clinical context, in medical research, for epidemiological studies, and in the planning of genetic services.Expand
Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.
Several features of the expansion mutation in HD are similar to those previously observed for mutations of similar size in spinobulbar muscular atrophy and in myotonic dystrophy, and to those observed more recently in spinocerebellar ataxia type 1 and in dentatorubropallidoluysian atrophy, four diseases also caused by expansion of CAG repeats. Expand
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
The Huntington's disease mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype. Expand
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
Sib pair and parent–child analysis revealed that the CAG repeat demonstrates only mild instability, and significant associations were also found between repeat length and age of death and onset of other clinical features. Expand