scholarly journals X-linked dystonia-parkinsonism: over and above a repeat disorder

2021 ◽  
Vol 33 (4) ◽  
pp. 319-324
Author(s):  
Jelena Pozojevic ◽  
Joseph Neos Cruz ◽  
Ana Westenberger
Keyword(s):  
Disease Onset ◽  
Repeat Expansion ◽  
Clinical Parameters ◽  
Adult Onset ◽  
Related Disease ◽  
Hexanucleotide Repeat ◽  
Age Related ◽  
Disease Penetrance ◽  
Molecular Aspects

Abstract X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative movement disorder, caused by a founder retrotransposon insertion in an intron of the TAF1 gene. This insertion contains a polymorphic hexanucleotide repeat (CCCTCT)n, the length of which inversely correlates with the age at disease onset (AAO) and other clinical parameters, aligning XDP with repeat expansion disorders. Nevertheless, many other pathogenic mechanisms are conceivably at play in XDP, indicating that in contrast to other repeat disorders, the (CCCTCT)n repeat may not be the actual (or only) disease cause. Here, we summarize and discuss genetic and molecular aspects of XDP, highlighting the role of the hexanucleotide repeat in age-related disease penetrance and expressivity.

PHYSICAL ACTIVITY AS HEALTHY INTERVENTION AGAINST SEVERE OXIDATIVE STRESS IN ELDERLY POPULATION

2013 ◽  
pp. 1-9
Author(s):  
C. TOMAS-ZAPICO ◽  
E. IGLESIAS-GUTIERREZ ◽  
B. FERNANDEZ-GARCIA ◽  
D. DE GONZALO-CALVO
Keyword(s):  
Oxidative Stress ◽  
Physical Activity ◽  
Elderly Population ◽  
Physiological Basis ◽  
Related Disease ◽  
Age Related ◽  
Wide Range ◽  
Health Related ◽  
Relevant Risk Factor

Severe oxidative stress is a relevant risk factor for major deleterious health-related events in olderpeople and is thought to be an important contributor to age-related disease. Literature has suggested oxidativestress as a therapeutic target for mitigating the biological decline and attenuating the occurrence of adverseclinical events in aged individuals. However, definitive treatments are not known. Regular and moderate physicalactivity has been proposed as possible intervention for slowing age-related decline. This healthy strategy presentsa wide range of beneficial aspects for elderly, from the reduction of morbidity, disability, frailty and mortalityrates to treatment of many age-related disorders. Importantly, the global benefits on health are not shared by anyother strategies. Nevertheless, the physiological basis by which exercise produces its benefits to the organism isnot fully understood. This review summarizes the evidence for the role of physical activity as potential healthyintervention for mitigating the negative aspects of aging through the modulation of the oxidative mechanisms.

scholarly journals The Role of Macromolecular Damage in Aging and Age-related Disease

2014 ◽  
Vol 69 (Suppl 1) ◽  
pp. S28-S32 ◽  
Author(s):  
A. G. Richardson ◽  
E. E. Schadt
Keyword(s):  
Related Disease ◽  
Age Related ◽  
Macromolecular Damage

scholarly journals Molecular aspects of age-related cognitive decline: the role of GABA signaling

2015 ◽  
Vol 21 (7) ◽  
pp. 450-460 ◽  
Author(s):  
Joseph A. McQuail ◽  
Charles J. Frazier ◽  
Jennifer L. Bizon
Keyword(s):  
Cognitive Decline ◽  
Age Related ◽  
Gaba Signaling ◽  
Molecular Aspects ◽  
Age Related Cognitive Decline

scholarly journals Choroidal Vascularity Index in Adult-Onset Foveomacular Vitelliform Dystrophy: A Pilot Study

2021 ◽  
Vol 11 (21) ◽  
pp. 10487
Author(s):  
Solmaz Abdolrahimzadeh ◽  
Serena Fragiotta ◽  
Chiara Ciacimino ◽  
Mariachiara Di Pippo ◽  
Gianluca Scuderi
Keyword(s):  
Pilot Study ◽  
Healthy Subjects ◽  
Age Related Macular Degeneration ◽  
Early Age ◽  
Adult Onset ◽  
Age Related ◽  
Luminal Area ◽  
Choroidal Vasculature ◽  
Vascular Status

This pilot study aims to investigate choroidal vascular status in eyes with adult-onset foveomacular vitelliform dystrophy (AOFVD), early age-related macular degeneration (AMD), and age-matched controls. In this retrospective study, choroidal thickness (CT) was measured manually using spectral domain optical coherence tomography images of the fovea, and 500 and 1500 µm from the nasal and temporal regions in the fovea. The horizontal B-scan was imported into Fiji software. Choroidal vascularity index (CVI) and luminal and stromal areas were calculated. A total of 36 eyes from 36 patients, including 18 eyes with AOFVD and 18 eyes with CD, and 16 eyes of healthy subjects were included. CVI was significantly different among subgroups (ANOVA, p = 0.004). Eyes with AOFVD presented a higher CVI (+0.03 ± 0.01, p = 0.001) than eyes with CD and controls (p = 0.03). No differences in CVI were detected between controls and eyes with CD (p = 0.25). AOFVD eyes accounted for the greatest luminal area, particularly significant in comparison with healthy controls (+0.27 ± 0.11, p = 0.02). AOFVD eyes present a greater CVI than eyes with CD and controls. The major choroidal involvement is on the luminal component, further corroborating a possible role of the choroidal vasculature in the pathological manifestations of AOFVD disease.

scholarly journals Puzzles in modern biology. III. Two kinds of causality in age-related disease

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 2533 ◽  
Author(s):  
Steven A. Frank
Keyword(s):  
Physiological Function ◽  
Age Of Onset ◽  
Disease Onset ◽  
Physiological Role ◽  
Rate Function ◽  
Causal Factor ◽  
Modern Biology ◽  
Related Disease ◽  
Age Related ◽  
And Function

The two primary causal dimensions of age-related disease are rate and function. Change in rate of disease development shifts the age of onset. Change in physiological function provides necessary steps in disease progression. A causal factor may alter the rate of physiological change, but that causal factor itself may have no direct physiological role. Alternatively, a causal factor may provide a necessary physiological function, but that causal factor itself may not alter the rate of disease onset. The rate-function duality provides the basis for solving puzzles of age-related disease. Causal factors of cancer illustrate the duality between rate processes of discovery, such as somatic mutation, and necessary physiological functions, such as invasive penetration across tissue barriers. Examples from cancer suggest general principles of age-related disease.

scholarly journals Role of PAPP-A in aging and age-related disease

2013 ◽  
Vol 48 (7) ◽  
pp. 612-613 ◽  
Author(s):  
Cheryl A. Conover
Keyword(s):  
Related Disease ◽  
Age Related

scholarly journals Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study

2017 ◽  
Vol 103 (2) ◽  
pp. 438-445 ◽  
Author(s):  
Karin van der Tuin ◽  
Arjen R Mensenkamp ◽  
Carli M J Tops ◽  
Eleonora P M Corssmit ◽  
Winand N Dinjens ◽  
...  
Keyword(s):  
Retrospective Cohort ◽  
Mutation Detection ◽  
Clinical Manifestations ◽  
Clinical Aspects ◽  
Tertiary Referral ◽  
Related Disease ◽  
Mutation Carriers ◽  
Age Related ◽  
Predisposition Genes ◽  
Disease Penetrance

Abstract Context Paraganglioma (PGL) has the highest degree of heritability among human neoplasms. Current clinical understanding of germline SDHA mutation carriers is limited. Objective To estimate the contribution of SDHA mutations in PGL and to assess clinical manifestations and age-related penetrance. Design Nationwide retrospective cohort study. Setting Tertiary referral centers in the Netherlands (multicenter). Patients Germline SDHA analysis was performed in 393 patients with genetically unexplained PGL. Subsequently, 30 index SDHA mutation carriers and 56 nonindex carriers were studied. Main Outcome Measures SDHA mutation detection yield, clinical manifestations, and SDHA-related disease penetrance. Results Pathogenic germline SDHA variants were identified in 30 of the 393 referred patients with PGL (7.6%), who had head and neck PGL (21 of 174 [12%]), pheochromocytoma (4 of 191 [2%]), or sympathetic PGL (5 of 28 [18%]). The median age at diagnosis was 43 years (range, 17 to 81 years) in index SDHA mutation carriers compared with 52 years (range, 7 to 90 years) in nonmutation carriers (P = 0.002). The estimated penetrance of any SDHA-related manifestation was 10% at age 70 years (95% confidence interval, 0% to 21%) in nonindex mutation carriers. Conclusion Germline SDHA mutations are relatively common (7.6%) in patients with genetically unexplained PGL. Most index patients presented with apparently sporadic PGL. In this SDHA series, the largest assembled so far, we found the lowest penetrance of all major PGL predisposition genes. This suggests that recommendations for genetic counseling of at-risk relatives and stringency of surveillance for SDHA mutation carriers might need to be reassessed.

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