Chorée chronique progressive héréditaire de Huntington – Maladie de Huntington à Português: Doença de Huntington, – Coréia de Huntington – Doença de. A ocorrência de um caso de coreia reumática numa família com doença de Huntington realça a importância do diagnóstico diferencial das. científico sobre a doença de Huntington. Palavras-chave: Américo Negrette, doença de Huntington, coréia, Huntingtina, CAG. Correspondence.

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In the patients studied, the expanded trinucleotide cytosine-adenine-guanine repeat at the Huntington disease gene ranged from 41 to 69, mean At age 46, she had prominent hyperkinesias, behavioral disturbances, and mild cognitive deterioration.

In a cpreia of the HD mutation and the characteristics of its transmission in 36 HD families, Trottier et al. However, alternative mechanisms for creating haplotype diversity do not require a multiple mutational origin. There were no cases like ours published in the main databases Table 1.

Huntington’s disease in children: The distribution of G8 haplotypes presented the same difficulty whichever test was being considered; only about two-thirds of couples would be informative. They suggested that a linkage study of modifiers would be feasible given the cooperation of major centers and might be rendered more efficient by concentrating on sib pairs that are highly discordant for age at onset.

The mean delay before diagnosis was 9 years.

Huntington’s Disease Information Page | National Institute of Neurological Disorders and Stroke

In addition to Huntington disease, there are at least 8 other diseases of the central nervous system, each of which is known to be associated with a different protein containing an expanded polyglutamine sequence. Although MRI showed no caudate atrophy, she had generalized chorea, ataxia, and mild cognitive impairment.

He began with febrile generalized tonic-clonic seizures at the age of 3 months, but his development was normal until 8 years of age, when he started with progressive gait difficulties. At the low range of mutant CAG repeat size 36 to 44 repeatshigher normal CAG repeat sizes were related to an earlier age at onset, while in the high range of the mutant repeat size 44 to 64 repeatshigher values of the normal repeat size were related to a later age at onset. The authors suggested that the combination of mutant huntingtin and a source of oxyradical stress such as excessive dopamine may induce autophagy and may underlie the selective cell death characteristic of HD.


Since the discovery of the gene, HD has been defined as an autosomal dominant neurodegenerative disease caused by a CAG repeat expansion mutation, i.

Dopamine also increased aggregate formation of mutant huntingtin via the D2 receptor DRD2; The term juvenile Huntington’s disease is usually applied to Huntington disease patients with onset before 20 years of age. He had not received any specific treatment and there was no history of drug use or medication allergies. All patients were interviewed following a structured clinical questioner. Like the disease gene, it is located in the most distal portion of 4p, flanked by D4S10 and the telomere.

They found that psychomotor skills showed the most significant consistent decline among cognitive functions assessed. It is vital that these practices should be continued.

Each haplotype examined involved expansion of repeats to lengths that are classified as normal by HD investigators less than 28 repeats.

Her twin sister shared the CAG repeat but was unaffected 7 years after disease onset in the affected twin. Drugs may be prescribed to treat depression and anxiety.

By age 18 years, she began gait disturbances and anarthria, followed by progressive intellectual decline with psychiatric disturbance and dysphagia. In contrast to conventional models of nucleated growth polymerization of proteins, Chen et al.

Nonetheless, the pathophysiologic mechanism underlying epileptic seizures in juvenile Huntington disease remains unclear. The girl, 5 years old at the time of report, had been adopted because of the inability of her biologic parents to care for her.

In contrast, normal control brain areas expressed little to no kD AKT. The disease has a progressive course with a decline dr mental abilities, and the development of psychiatric problems.

Molecular testing was performed following international standard protocols for laboratory testing 5. Analysis of the pattern of flow demonstrated systematic underascertainment for repeat lengths less than Am J Hum Genet ; The part of Finland that is an exception to the above statement is the Aland archipelago where the frequency of HD is high, but this is an exception that proves the rule: By quantifying the CAG repeat sizes of individual mutant alleles in tissues derived from an accurate genetic mouse model of HD, Kennedy and Shelbourne showed that the mutation became very unstable in striatal tissue.


They reviewed the methods for finding genes and tabulated the methods used in each of the 21 disorders. This was consistent with a concentration-dependent nucleation and aggregation model of inclusion formation, indicating that brain-specific factors are not necessary for this process.


Negrette’s book on HD, published inhas pages and eight chapters, covering clinical description of several cases, their semiology, pathophysiology of choreas, basic genetics, diagnosis, additional tests and hereditary aspects, as well as social, economic and environmental aspects and bibliographical references 6.

Encouraged by animal studies, a clinical trial of human fetal striatal tissue transplantation for the treatment of Huntington disease was initially undertaken at the University of South Florida.

At age 30 years, the twins had a similar degree of cognitive defect but differed slightly in the severity of chorea. The disease terminated in death on average 17 years after manifestation of the first symptoms. The group collected extensive pedigrees – who is related to whom – which were essential for mapping the HD gene to a chromosome.

While polyQ-induced cell death was reduced by inhibiting cytochrome c release from mitochondria, protection by HSP27 was regulated by its phosphorylation status and was independent of its ability to bind to cytochrome c. They found a similar defect in brain mitochondria from transgenic mice expressing full-length mutant huntingtin, and this defect preceded the onset of pathologic or behavioral abnormalities by months.

The evidence also supported the hypothesis that somatic increases of mutation length may play a role in the progressive nature of the disorder.

Huntington’s Disease Information Page

With availability of direct tests for the HD mutation, Almqvist et al. Coria the in vitro results, a reduction of mutant HTT and pathologic aggregates, accompanying the overexpression of miRa, was observed in HD models of human embryonic kidney cells and mouse neuroblastoma cells.

It was suspected that his mother and his deceased year-old son were also affected. She had severe dysphagia needing a gastric probe for feeding.

To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. Alternate versions of full-length huntingtin, distinguished by epitope accessibility, were localized to different sets of nuclear and perinuclear organelles involved in RNA biogenesis and membrane trafficking. An earlier onset form called juvenile HD occurs under age Affected offspring of late-onset females also had late-onset disease while those of late-onset males had significantly earlier ages of onset.