C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing.
C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing. Neurodegener Dis. 2018 Oct 18;18(5-6):239-253 Authors: Ida CM, Butz ML, Lundquist PA, Dawson DB Abstract BACKGROUND: European studies identified the C9orf72 repeat expansion as the most frequent genetic alteration in patients with Huntington disease (HD)-like phenotypes but negative HD genetic testing. OBJECTIVE: To investigate C9orf72 repeat expansion frequency in individuals tested for HD in a North American tertiary referral laboratory. METHODS: Three hundred and seventy-three cases (115 positive and 258 negative for HD) were evaluated by genotyping PCR, with follow-up Southern blot and 5' repeat methylation status assessment by combined repeat-primed and methylation-specific PCR in a subset. RESULTS: Three cases (all HD-negative) tested positive: 2 had> 2,000 repeats and were methylated, 1 had 80-100 repeats and was unmethylated. Two cases (1 HD-positive and 1 HD-negative) had intermediate alleles (20-29 repeats) and were unmethylated. The remaining 368 cases were negative (
Publication date: Available online 13 February 2020Source: NeuroImage: ClinicalAuthor(s): Jean-Francois Mangin, Denis Rivière, Edouard Duchesnay, Yann Cointepas, Véronique Gaura, Christophe Verny, Philippe Damier, Pierre Krystkowiak, Anne-Catherine Bachoud-Lévi, Philippe Hantraye, Philippe Remy, Gwenaëlle DouaudAbstractHuntington's disease (HD) is an inherited, autosomal dominant disorder that is characteristically thought of as a degenerative disorder. Despite cellular and molecular grounds suggesting HD could also impact normal development, there has been scarce systems-level data obtained from ...
CONCLUSIONS: Performed analyses revealed the possible involvement of various signaling pathways in OIR pathomechanism, mostly specific to the OIR phase. Dysregulation of genes involved in oxidative phosphorylation may have an impact on neovascularization development. PMID: 32053824 [PubMed - as supplied by publisher]
New England Journal of Medicine,Volume 382, Issue 7, February 2020.
ConclusionsSensor-based gait variability parameters were identified as clinically most relevant digital biomarker for gait impairment in HD. Altered gait variability represents characteristic irregularity of gait in HD and reflects disease severity.
CONCLUSIONS: Our study demonstrated that knockdown of BDNF-AS could elevate SH-SY5Y cell viability, inhibit autophagy and apoptosis in MPTP-induced PD models through regulating miR-125b-5p, suggesting that BDNF-AS might act as a potential therapeutic target for PD. PMID: 32057951 [PubMed - as supplied by publisher]
AbstractHuntington ’s disease (HD) is an autosomal-dominant neurodegenerative disorder caused by an increased and unstable CAG DNA expansion in theHuntingtin (HTT) gene, resulting in an elongated polyglutamine tract in huntingtin protein. Despite its monogenic cause, HD pathogenesis remains elusive and without any approved disease-modifying therapy as yet. A growing body of evidence highlights the emerging role of high-mobility group box 1 (HMGB1) protein in HD pathology. HMGB1, being a nuclear protein, is primarily implicated in DNA repair, but it can also translocate to the cytoplasm and participate into numerous c...
ConclusionThis development is testimony to a simple though important fact: cultures are not stable, unchanging entities, and no nation, be the US, China or Taiwan is by nature endowed with a genetic disposition toward dictatorship or democracy. Culture is something people acquire, not something they are born with. Both in Taiwan and in Chin a more than 90 percent of the population are ethnic Han Chinese, but the countries have developed very different political cultures, and the difference seems to be growing.
A novel machine-learning tool that uses genetic data from patient blood samples can strongly predict the progression and severity of neurodegenerative diseases such as Alzheimer's and Huntington's.Medscape Medical News
DiscussionThe PD-CRS is a valid and reliable instrument to assess global cognition in HD in routine clinical care and clinical trials.
ch Reggio GPR6 is an orphan G protein-coupled receptor that has been associated with the cannabinoid family because of its recognition of a sub-set of cannabinoid ligands. The high abundance of GPR6 in the central nervous system, along with high constitutive activity and a link to several neurodegenerative diseases make GPR6 a promising biological target. In fact, diverse research groups have demonstrated that GPR6 represents a possible target for the treatment of neurodegenerative disorders such as Parkinson’s disease, Alzheimer’s disease, and Huntington’s disease. Several patents have...