Presentation Information
[PE4-3]Clinical characteristics of cerebral small vessel disease in pseudoxanthoma elasticum
○Shoichiro Ando1, Masahiro Uemura1, Sho Kitahara1, Yutaka Homma2, Hitoshi Aizawa3, Akira Iwanaga4, Hiroyuki Murota4, Osamu Onodera1 (1.Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan, 2.Department of Neurology, Showa General Hospital, Tokyo, Japan, 3.Department of Neurology, Tokyo Medical University, Tokyo, Japan, 4.Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan)
【Objectives】 Cerebral small vessel disease (cSVD) is the prevalent cause of dementia and gait disturbance in the elderly. Recent study indicated that genetic factors are associated with cSVD irrespective of vascular risk factors. Pseudoxanthoma elasticum (PXE) is one of the hereditary metabolic diseases caused by mutation in ATP binding cassette subfamily C member 6 (ABCC6) gene. PXE patients also suffer from cSVD, however, clinical features remain unknown. This study aims to investigate the clinical characteristics of cSVD in PXE. 【Methods】 Three PXE patients with cSVD were enrolled. We reviewed the clinical characteristics and the findings of brain magnetic resonance imaging (MRI). The pathogenicity of ABCC6 mutations in these patients was evaluated by previous reports. 【Results】 Identified mutations in ABCC6 were as follows: homozygous p.Met848fs mutation (n=1) and compound heterozygous p.Trp14Ter+p.Met848fs (n=1) and p.Gln378Ter+p.Leu1313fs mutation (n=1). The mean age of onset was 35.3±12.3 years old. Moderate or severe leukoencephalopathy in addition to lacunar infarction was found in all patients. Cerebral microbleeds were also found in two patients. However, anterior temporal lesions (ATLs) were absent. 【Conclusions】 cSVD of PXE is characterized by early-onset leukoencephalopathy. However, other characteristic findings such as ATLs were absent. These results suggest that genetic tests of ABCC6 should be considered for patients with early-onset leukoencephalopathy.