Rinsho Shinkeigaku (Clinical Neurology)

Symposium 01iby non designated speakersj

Clinical and neuroimaging characteristics of patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS)

Takeshi Ikeuchi, M.D., Ph.D.1)

1)Department of Molecular Genetics, Brain Research Institute, Niigata University

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant early-onset dementia that affects the cerebral white matter predominantly. Mutations in colony stimulating factor-1 receptor (CSF-1R) were identified as the genetic cause of HDLS, and this enabled the antemorterm diagnosis of HDLS by genetic testing. This review paper describes clinical and neuroimaging findings in genetically-proven HDLS cases. The mean age at onset was 45 years ranging from 18 to 78 years. The most frequent initial symptom was cognitive decline. A wide range of clinical features including intellectual decline, behavioral and character changes, convulsion, pyramidal signs and motor symptoms have been described. Series of brain MRI study exhibit the white matter changes on FLAIR images, which were occasionally asymmetric in the early phase of the disease. Early MRI features are alteration of corpus callosum and dilatation of lateral ventricles showing central atrophy. Hyperintensity lesions detected by diffusion weighted images were detectable in some cases with HDLS. Brain CT study showed spotty calcification in the affected white matter. HDLS is not rare disease and should be considered as differential diagnosis of early-onset dementia exhibiting the white matter disease.
Full Text of this Article in Japanese PDF (599K)

(CLINICA NEUROL, 54: 1158|1161, 2014)
key words: early onset dementia, leukoencephalopathy, CSF-1R, microglia, haploinsufficiency

(Received: 21-May-14)