title: Sporadic Cases with Novel Mutations and Pedigree in Hereditary Leukoencephalopathy with Axonal Spheroids.
abstract: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant hereditary disease, featured by cerebral white matter degeneration with demyelination and axonal spheroids. We collected three gene-confirmed HDLS cases in our neurodegenerative clinic. Two HDLS cases were sporadic with novel mutations, while another case had a family history with previously described mutations. All three cases suffered memory problems with white matter lesions and pyramid signs. No obvious clinical differences were observed between sporadic and familial HDLS cases. Distinct features, such as subcortical calcification in brain computed tomography and asymmetric abnormal MRI signal along the pyramid tracts throughout brainstem and spinal cord (cervical, thoracic, and lumbar segments), were observed in one sporadic case with novel mutation. Therefore, the interactions of genotype-phenotype still need to be further investigated.
authors.affiliation: Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
authors.forename: Liyong
authors.initials: L
authors.lastname: Wu
authors.affiliation: Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
authors.forename: Jia
authors.initials: J
authors.lastname: Liu
authors.affiliation: National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences & Neuroscience Center, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: Longze
authors.initials: L
authors.lastname: Sha
authors.affiliation: Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
authors.forename: Xianling
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
authors.forename: Jieying
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Dong
authors.affiliation: Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
authors.forename: Jianping
authors.initials: J
authors.lastname: Jia
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D056784:Leukoencephalopathies / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation; D010641:Phenotype
keywords: Hereditary leukoencephalopathy with axonal spheroids (HDLS); novel mutation; pedigree; pyramid tract; sporadic case; subcortical calcification