• 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… 



CAG‐repeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches

  • D. LangbehnM. HaydenJane S. Paulsen
  • Biology
    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.

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.

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.

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.

Juvenile onset Huntington's disease--clinical and research perspectives.

  • M. NanceR. 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.

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.

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.

Differences in duration of Huntington’s disease based on age at onset

Duration of disease is influenced by the age at symptom onset with juvenile and late onset patients with HD having shorter duration of illness compared with those with an onset between 20–49 years.