An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report

[1]  T. Ikeuchi,et al.  Cognitive dysfunction and symptoms of movement disorders in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. , 2018, Parkinsonism & related disorders.

[2]  Nick C Fox,et al.  Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy , 2017, Neurology: Genetics.

[3]  P. Klivényi,et al.  Novel AARS2 gene mutation producing leukodystrophy: a case report , 2016, Journal of Human Genetics.

[4]  Nick C Fox,et al.  Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. , 2016, JAMA neurology.

[5]  R. Takahashi,et al.  The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations , 2016, Journal of Human Genetics.

[6]  A. Vanderver.  Genetic Leukoencephalopathies in Adults , 2016, Continuum.

[7]  D. Ellison,et al.  Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R , 2015, Scientific Reports.

[8]  Robert W. Taylor,et al.  Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation , 2015, Front. Genet..

[9]  A. Federico,et al.  Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation. , 2014, Journal of Alzheimer's disease : JAD.

[10]  A. Vanderver,et al.  Novel (ovario) leukodystrophy related to AARS2 mutations , 2014, Neurology.

[11]  V. Tiranti,et al.  The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes , 2014, International journal of cell biology.

[12]  Matej Oresic,et al.  Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. , 2011, American journal of human genetics.

[13]  A. Hida,et al.  Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5 , 2011, neurogenetics.

[14]  O. Elroy-Stein,et al.  Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis. , 2006, Molecular genetics and metabolism.