Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases: A Review.
Sign Up to like & getrecommendations! Published in 2021 at "JAMA neurology"
DOI: 10.1001/jamaneurol.2020.4911
Abstract: Importance Vitamin-responsive inherited diseases are among the rare genetic disorders with a specific pharmacological treatment. Many of these conditions have a prominent neurological phenotype that is mainly reported in children. Being rare and often strikingly… read more here.
Keywords: vitamin responsive; neurogenetic diseases; adult onset; responsive neurogenetic ... See more keywords
Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51656
Abstract: Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) leads to rapidly progressive dementia and is caused by mutations in the gene CSF1R. Neurodegeneration is driven by dysfunction of microglia, the predominant cell type expressing… read more here.
Keywords: leukoencephalopathy axonal; adult onset; onset leukoencephalopathy; axonal spheroids ... See more keywords
Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51665
Abstract: Mutations in the prion‐like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with neurogenic and myopathic phenotypes. Recently, mutations in ANXA11 have been reported in patients with amyotrophic… read more here.
Keywords: dominant muscular; adult onset; onset dominant; muscular dystrophy ... See more keywords
Adult‐onset diabetes in Middle Eastern immigrants to Sweden: Novel subgroups and diabetic complications—The All New Diabetes in Scania cohort diabetic complications and ethnicity
Sign Up to like & getrecommendations! Published in 2020 at "Diabetes/Metabolism Research and Reviews"
DOI: 10.1002/dmrr.3419
Abstract: Middle Eastern immigrants to Europe represent a high risk population for type 2 diabetes. We compared prevalence of novel subgroups and assessed risk of diabetic macro‐ and microvascular complications between diabetes patients of Middle Eastern… read more here.
Keywords: adult onset; novel subgroups; onset diabetes; eastern immigrants ... See more keywords
Adult onset hemophagocytic lymphohistiocytosis prognosis is affected by underlying disease and coexisting viral infection: analysis of a single institution series of 35 patients
Sign Up to like & getrecommendations! Published in 2017 at "Hematological Oncology"
DOI: 10.1002/hon.2314
Abstract: Adult onset hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome, which can develop as a complication of many disorders. Early diagnosis is essential in order to avoid a fatal outcome. To confirm the diagnosis of acquired… read more here.
Keywords: onset hemophagocytic; adult onset; institution series; hemophagocytic lymphohistiocytosis ... See more keywords
Measuring high-risk parents' opinions about direct-to-consumer genetic testing for adult-onset inherited cancer syndromes in their adolescent and young adult children.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1685
Abstract: Neither direct-to-consumer (DTC) genetic testing nor predictive genetic testing for adult-onset conditions is recommended for minor children due to ethical concerns and low clinical utility. However, parents with pathogenic variants (PVs) in disease-causing genes may… read more here.
Keywords: adult; adult onset; genetic testing; risk ... See more keywords
Report of A Family with Adult‐Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Without Mutations in CSF1R, AARS1 or AARS2
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13650
Abstract: Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare neurodegenerative disorder with characteristic clinicopathological features. Identification of pathogenic mutations in CSF1R, AARS1, and AARS2 genes led to increased recognition and diagnosis of… read more here.
Keywords: leukoencephalopathy axonal; adult onset; onset leukoencephalopathy; axonal spheroids ... See more keywords
Adult‐Onset Idiopathic Lower Limb Dystonia during Stair Descent Treated with Botulinum Toxin Injection
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13670
Abstract: A 31-year-old woman came to our clinic for involuntary kicking of the right leg on stair descent. When going down, there was hip fl exion and knee extension followed by slight foot inversion then plantar… read more here.
Keywords: onset idiopathic; adult onset; stair; idiopathic lower ... See more keywords
NOTCH2NLC GGC Repeat Expansion Presenting as Adult‐Onset Cervical Dystonia
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13677
Abstract: Neuronal intranuclear inclusion disease (NIID) is the pathological hallmark of a heterogeneous neurodegenerative disease span-ning dementia, neuropathy, parkinsonism, encephalitic episodes, and seizures. 1 Onset may be in infancy, childhood, or adulthood and be sporadic or… read more here.
Keywords: adult; adult onset; cervical dystonia; ggc repeat ... See more keywords
Postoperative hypothalamic damage predicts postoperative weight gain in patients with adult‐onset craniopharyngioma
Sign Up to like & getrecommendations! Published in 2022 at "Obesity"
DOI: 10.1002/oby.23447
Abstract: This study aimed to recapitulate the change trajectory of postoperative weight and investigate the association between postoperative hypothalamic damage and weight gain and hypothalamic obesity (HO) in patients with adult‐onset craniopharyngioma. read more here.
Keywords: postoperative hypothalamic; postoperative weight; adult onset; patients adult ... See more keywords
Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult‐onset findings from chromosomal‐microarray‐analysis
Sign Up to like & getrecommendations! Published in 2020 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5856
Abstract: Chromosomal‐microarray‐analysis (CMA) can identify variants of uncertain clinical significance, susceptibility‐loci for neurodevelopmental conditions, and risk for adult‐onset conditions. We explored choices made by couples undergoing prenatal CMA, their understanding of these findings, reasons for and… read more here.
Keywords: personalized prenatal; chromosomal microarray; adult onset; microarray analysis ... See more keywords