Huntington disease
Clinical and genetic features of Huntington disease in Sri Lanka
... of Huntington disease was evidenced by Zielonka et ...of disease in these women con- trary to previous reports, or because of social factors inter- vening and delaying presentation in ...
5
HTT haplogroups in Finnish patients with Huntington disease
... Huntington disease (HD) is caused by an expansion of a Cytosine-Adenosine-Guanosine (CAG) repeat in the HTT ...The disease is most common among white populations, whereas the prevalence is only a ...
6
Juvenile Huntington disease: CT and MR features
... juvenile Huntington disease and to determine whether adult imaging criteria for Huntington disease are helpful for pediatric ...juvenile Huntington disease were studied with CT ...
8
The long and the short of aberrant ciliogenesis in Huntington disease
... Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that is caused by a mutant huntingtin (HTT) gene encoding a version of the Htt protein with an expanded polyglutamine ...causes ...
6
Energy deficit in Huntington disease: why it matters
... Huntington disease (HD) is an autosomal dominant neurodegenerative disease with complete penetrance. Although the understanding of the cellular mechanisms that drive neurodegeneration in HD and ...
8
Presentation and care of a family with Huntington disease in a resource-limited community
... isolation created by living on a small island nation. Apart from the initial presentation of the proband at the general hospital, all evaluations were performed on home visits which were welcomed by the patients and ...
8
Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset
... per Huntington disease patient group during the experiment are presented in figure e-2, ...for disease duration and calendar age (figure ...tington disease with an earlier age at ...with ...
13
Neurology outreach clinic for Huntington disease in PeruLessons for neurodegenerative diseases
... example, Huntington disease (HD), a fatal hereditary neurodegen- erative disease, is particularly prevalent around Lake Maracaibo in Venezuela and in the Cañete Valley of ...neurodegenerative ...
5
Brain networks in Huntington disease
... stage Huntington disease ...of disease progression in premanifest ...new disease-modifying therapies and identify new regions that merit mechanistic study in HD ...
10
Clinical manifestations of homozygote allele carriers in Huntington disease
... The presence of 36 or more CAG trinucleotide repeats in the HTT gene nearly ensures the development of Huntington disease (HD) as an autosomal dominantly transmitted disorder. Because homozygote patients ...
9
Indirect tolerability comparison of Deutetrabenazine and Tetrabenazine for Huntington disease
... Huntington disease (HD) is a neurodegenerative disorder characterized by chorea and progressive motor, cognitive, and behavioral symptoms [1, 2]. The only US Food and Drug Administration (FDA)-approved drug ...
11
Mutant huntingtin impairs immune cell migration in Huntington disease
... In Huntington disease (HD), immune cells are activated before symptoms arise; however, it is unclear how the expression of mutant huntingtin (htt) compromises the normal functions of immune ...early ...
12
Quantitative 7T Phase Imaging in Premanifest Huntington Disease
... Disclosures: Katherine L. Possin—RELATED: Grant: National Institute on Aging,* UNRELATED: Grants/Grants Pending: Michael J. Fox Foundation,* Hellman Family Foundation,* Payment for Lectures (including service on Speakers ...
7
The huntingtin protein in Huntington disease
... Huntington disease (HD) is caused by expansion of a CAG repeat within the first exon of the huntingtin gene (4p16.3) [1]. This mutation results in an expanded polyglutamine repeat (polyQ) at the N-terminus ...
109
Neurofilament light protein in blood predicts regional atrophy in Huntington disease
... of Huntington disease (HD) onset and ...predicted disease progression in these 3 domains over the following 3 ...current disease status and onset, but also ongoing progression in ...
9
Induction of neostriatal neurogenesis slows disease progression in a transgenic murine model of Huntington disease
... stance P and extended fibers to the globus pallidus. Only AdBDNF/AdNoggin-treated R6/2 mice harbored migrating doublecortin-defined neuroblasts in their striata, and the new neurons expressed p27 as a marker of mitotic ...
15
Magnetization Transfer Imaging in Premanifest and Manifest Huntington Disease
... Hierarchical multiple regression analysis was performed to ascer- tain the relationship of MTR values with clinical measures. For this analysis only gene carriers (premanifest ⫹ manifest) were included, as the aim was to ...
6
MicroRNAs in CSF as prodromal biomarkers for Huntington disease in the PREDICT-HD study
... treatments are preventing the initiation of the degenerative process in HD clinical trials that seek to prevent early damaging effects of the HTT gene on the integrity of the brain. These findings show particular promise ...
11
Making (anti-) sense out of huntingtin levels in Huntington disease
... derived HD lymphoblasts, where it was shown that the expanded CAG repeat did not affect HTT mRNA expression [6]. Conversely, a small (~10%) upregulation of mutant HTT mRNA was recently shown in human post-mortem HD brain ...
11
HUNTINGTON DISEASE: CURRENT ADVANCES IN PATHOGENESIS AND RECENT THERAPEUTIC STRATEGIES
... brain magnetic resonance imaging (MRI). Detection of pre- symptomatic patients (i.e. carrying the mutation but asymptomatic) demonstrated significant atrophy of the caudate and putamen [47-49] suggesting that ...
11