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Neuroaxonal integrity evaluated by MR spectroscopy in a case of CARASIL
  1. Yoshinori Nishimoto1,
  2. Mamoru Shibata1,
  3. Osamu Onodera2,
  4. Norihiro Suzuki1
  1. 1Department of Neurology, School of Medicine, Keio University, Tokyo, Japan
  2. 2Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute, Niigata University, Niigata-shi, Japan
  1. Correspondence to Dr Mamoru Shibata, Department of Neurology, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan; mshibata{at}

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Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary disease characterised by ischaemic cerebral white matter lesions, spondylosis and alopecia.1 2 Like cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), CARASIL is caused by abnormalities of a single gene. The causative gene has been recently identified as HTRA1.3 The white matter lesions, which result from non-hypertensive small-vessel arteriopathy, appear in early adulthood,1 3 but their association with neurological manifestations is poorly understood.

Case report

A 37-year-old woman visited our hospital due to her inability to stand without assistance. The deep tendon reflexes in her lower limbs were brisk and there was mild muscle weakness in the proximal lower extremities. An MRI revealed diffuse subcortical white matter lesions. Her Mini-Mental State Examination score was 27/30, which was within …

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  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.