Affiliations: [a] Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China
| [b] 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
Correspondence:
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Correspondence to: Dr. Jianping Jia, Department of Neurology, Xuanwu hospital, Capital Medical University, Changchun Street 45, Beijing 100053, China. Tel.: +86 10 83198730; Fax: +86 10 83194745; E-mail: [email protected].
Note: [1] These authors contributed equally to this work.
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.
