Genomes and Genes
Summary: Any of various diseases affecting the white matter of the central nervous system.
- Du Y, Li C, Guo J, Guo P, Li Z, Zhang W. [A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A) gene and literature review]. Zhonghua Nei Ke Za Zhi. 2017;56:433-437 pubmed publisher..G24R????>???)??????????(HGMDpro)????????????????????????????????????????????????????????? ???TUBB4A???????????????????????????????/???????????H?ABC?????????????????TUBB4A???????????H?ABC???. ..
- Croall I, Lohner V, Moynihan B, Khan U, Hassan A, O Brien J, et al. Using DTI to assess white matter microstructure in cerebral small vessel disease (SVD) in multicentre studies. Clin Sci (Lond). 2017;131:1361-1373 pubmed publisher..The present study supports the use of DTI metrics as biomarkers of disease progression in multicentre studies. ..
- Ly H, Verma N, Wu F, Liu M, Saatman K, Nelson P, et al. Brain microvascular injury and white matter disease provoked by diabetes-associated hyperamylinemia. Ann Neurol. 2017;82:208-222 pubmed publisher..Ann Neurol 2017;82:208-222. ..
- Lin J, Wang D, Lan L, Fan Y. Multiple Factors Involved in the Pathogenesis of White Matter Lesions. Biomed Res Int. 2017;2017:9372050 pubmed publisher..With the development of gene technology, the effect of genetic factors on the pathogenesis of WMLs is gaining gradual attention. ..
- Duncombe J, Kitamura A, Hase Y, Ihara M, Kalaria R, Horsburgh K. Chronic cerebral hypoperfusion: a key mechanism leading to vascular cognitive impairment and dementia. Closing the translational gap between rodent models and human vascular cognitive impairment and dementia. Clin Sci (Lond). 2017;131:2451-2468 pubmed publisher..We propose that the use of such models is necessary for tackling the urgently needed translational gap from preclinical models to clinical treatments...
- Ayrignac X, Nicolas G, Carra Dallière C, Hannequin D, Labauge P. Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review. JAMA Neurol. 2017;74:1000-1008 pubmed publisherAdult-onset genetic leukoencephalopathies and leukodystrophies are increasingly recognized as a heterogeneous group of disorders with new diagnostic approaches and potential treatments...
- Ciraci S, Ozcan A, Ozdemir M, Chiang S, Tesi B, Ozdemir A, et al. A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct. J Pediatr Hematol Oncol. 2017;39:e321-e324 pubmed publisher..The patient died because of infection despite immunosuppressive therapy. Physicians managing patients with HLH must be vigilant about the possibility of central nervous system involvement including stroke. ..
- Lindemer E, Greve D, Fischl B, Augustinack J, Salat D. Regional staging of white matter signal abnormalities in aging and Alzheimer's disease. Neuroimage Clin. 2017;14:156-165 pubmed publisher..White matter staging could play an important role in a better understanding and the treatment of cerebrovascular contributions to brain aging and dementia. ..
- Lam B, Halliday G, Irish M, Hodges J, Piguet O. Longitudinal white matter changes in frontotemporal dementia subtypes. Hum Brain Mapp. 2014;35:3547-57 pubmed..Our results indicate that investigations of white matter changes reveal important differences across FTD syndromes with disease progression. ..
- Okamoto M, Takeshita J, Takahashi K, Tanaka A, Yoshida K, Kuriyama M. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: A case presented brain calcification and corpus callosum atrophy from over 10 years before the onset of dementia. Rinsho Shinkeigaku. 2017;57:521-526 pubmed publisher..This mutation was not observed in the patient's parents. Therefore, this mutation is considered to be a de novo mutation. He was diagnosed as having adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). ..
- Bertotti M, Linhares M, Ferreira R, Santos D, Athayde A, Mussi A, et al. Leukoencephalopathy, cerebral calcifications, and cysts: entity that can mimic a neoplasm. Arq Neuropsiquiatr. 2011;69:717-22 pubmed
- Pessoa A, Monteiro A, Queiroz R, Malveira G, Kok F. Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome. Arq Neuropsiquiatr. 2012;70:230-1 pubmed
- Yamamoto M, Serizawa T, Higuchi Y, Sato Y, Kawagishi J, Yamanaka K, et al. A Multi-institutional Prospective Observational Study of Stereotactic Radiosurgery for Patients With Multiple Brain Metastases (JLGK0901 Study Update): Irradiation-related Complications and Long-term Maintenance of Mini-Mental State Examination Score. Int J Radiat Oncol Biol Phys. 2017;99:31-40 pubmed publisher..This longer-term follow-up study further supports the already-reported noninferiority hypothesis of SRS alone for patients with 5 to 10 BMs versus 2 to 4 BMs. ..
- Abe A, Nishiyama Y, Harada Abe M, Okubo S, Ueda M, Mishina M, et al. Relative risk values of age, acrolein, IL-6 and CRP as markers of periventricular hyperintensities: a cross-sectional study. BMJ Open. 2014;4:e005598 pubmed
- Rutten Jacobs L, Markus H. Vascular Risk Factor Profiles Differ Between Magnetic Resonance Imaging-Defined Subtypes of Younger-Onset Lacunar Stroke. Stroke. 2017;48:2405-2411 pubmed publisher..The association of hypertension, smoking, and renal impairment with the presence of multiple lacunar infarcts and confluent WMH might reflect a diffuse small vessel arteriopathy. ..
- van Leijsen E, de Leeuw F, Tuladhar A. Disease progression and regression in sporadic small vessel disease-insights from neuroimaging. Clin Sci (Lond). 2017;131:1191-1206 pubmed publisher..We will discuss possible mechanisms and clinical implications of a dynamic time course of SVD, with both progression and regression of SVD markers. ..
- Iida S, Nakamura M, Asayama S, Kunieda T, Kaneko S, Osaka H, et al. Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report. BMC Neurol. 2017;17:47 pubmed publisher..Febrile infections may be an aggravating factor in patients with MTHFR deficiency. ..
- Chappell F, Del Carmen ValdÃ©s HernÃ¡ndez M, Makin S, Shuler K, Sakka E, Dennis M, et al. Sample size considerations for trials using cerebral white matter hyperintensity progression as an intermediate outcome at 1Â year after mild stroke: results of a prospective cohort study. Trials. 2017;18:78 pubmed publisher..Samples sizes based on Fazekas scores may be best estimated with simulation studies. ..
- Ma Y, Zhang X, Cheng C, Xu Q, Di H, Zhao J, et al. Leukoencephalopathy with calcifications and cysts: A case report. Medicine (Baltimore). 2017;96:e7597 pubmed publisher..LCC can be found at any age. A young age seems to be associated with severer symptoms. The clinical manifestations can be variable and aggressive. The potential pathogenic basis still needs further research. ..
- Lynch D, Rodrigues Brandão de Paiva A, Zhang W, Bugiardini E, Freua F, Tavares Lucato L, et al. Clinical and genetic characterization of leukoencephalopathies in adults. Brain. 2017;140:1204-1211 pubmed publisherLeukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter...
- Potic A, Popovic V, Ostojic J, Pekic S, Kozic D, Guerrero K, et al. Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy. BMC Neurol. 2015;15:22 pubmed publisher..The report shows for the first time that an unexplained chronic bladder dysfunction should be evaluated also as a possible 4H leukodystrophy, thus alerting to the unexpected neurologic and endocrine features in 4H leukodystrophy. ..
- French C, Seshadri S, Destefano A, Fornage M, Arnold C, Gage P, et al. Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease. J Clin Invest. 2014;124:4877-81 pubmed publisher..Together, these results extend the genetic etiology of stroke and demonstrate an increasing developmental basis for human cerebrovascular disease. ..
- van Leijsen E, van Uden I, Ghafoorian M, Bergkamp M, Lohner V, Kooijmans E, et al. Nonlinear temporal dynamics of cerebral small vessel disease: The RUN DMC study. Neurology. 2017;89:1569-1577 pubmed publisher..4-5.9, p = 0.003 for incident microbleeds). SVD progression is nonlinear, accelerating over time, and a highly dynamic process, with progression interrupted by reduction in some, in a population that on average shows progression. ..
- Dorboz I, Aiello C, Simons C, Stone R, Niceta M, Elmaleh M, et al. Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy. Brain. 2017;140:2550-2556 pubmed publisher..All exhibited neuroimaging that was consistent with hypomyelination. These findings define a novel, severe form of leukodystrophy caused by impaired NKX6-2 function...