title: Late-onset spinal form xanthomatosis without brain lesion: a case report.
abstract: BACKGROUND
  Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase (CYP27A1) gene. Patients with typical CTX show neurological dysfunction including bilateral cataracts, paresis, cerebral ataxia, dementia, and psychiatric disorders, and magnetic resonance imaging (MRI) has revealed symmetrical lesions in the cerebellar white matter.
  
  
  METHODS
  We report the case of a patient with late-onset spinal form CTX without brain lesion. He showed pyramidal tract signs, and impaired joint position and vibration sensation in the lower limbs. Cervical sagittal MRI demonstrated a longitudinally extensive white matter abnormality in the dorsal column of the C2-C7 spinal cord; however, a brain MRI revealed an absence of lesions, including in the cerebellar white matter. Genetic analysis of CYP27A1 revealed that the patient was compound heterozygous for p.Gln85Arg in exon 1, a novel mutation, and p.Arg405Gln in exon 7, a previously reported mutation.
  
  
  CONCLUSIONS
  This is the first report of late-onset spinal form CTX without typical neurological symptoms, and the first report of p.Gln85Arg in CYP27A1. We speculate that spinal form CTX without brain lesion is a clinically and radiologically rare variation of CTX. Therefore, spinal xanthomatosis should be included in the differential diagnosis of chronic myelopathy even with late-onset and/or no other typical neurological findings.
authors: Division of Neurology, Department of Internal Medicine, Toho University School of Medicine, 6-11-1 Omorinishi, Ota-ku, Tokyo, 143-8541, Japan. jackknife3962@hotmail.co.jp.
authors: Masaru
authors: M
authors: Yanagihashi
authors: Division of Neurology, Department of Internal Medicine, Toho University School of Medicine, 6-11-1 Omorinishi, Ota-ku, Tokyo, 143-8541, Japan. osamukano@aol.com.
authors: Osamu
authors: O
authors: Kano
authors: Department of Stem Cell Biology and Regenerative Medicine, Shiga University of Medical Science, Seta Tsukinowa-cho, Otsu, Shiga, 520-2192, Japan. tom@belle.shiga-med.ac.jp.
authors: Tomoya
authors: T
authors: Terashima
authors: Division of Neurology, Department of Internal Medicine, Toho University School of Medicine, 6-11-1 Omorinishi, Ota-ku, Tokyo, 143-8541, Japan. ukws471@gmail.com.
authors: Yuji
authors: Y
authors: Kawase
authors: Division of Neurology, Department of Internal Medicine, Toho University School of Medicine, 6-11-1 Omorinishi, Ota-ku, Tokyo, 143-8541, Japan. sayori.hana@gmail.com.
authors: Sayori
authors: S
authors: Hanashiro
authors: Division of Neurology, Department of Internal Medicine, Toho University School of Medicine, 6-11-1 Omorinishi, Ota-ku, Tokyo, 143-8541, Japan. sawadayonago@gmail.com.
authors: Masahiro
authors: M
authors: Sawada
authors: Division of Neurology, Department of Internal Medicine, Toho University School of Medicine, 6-11-1 Omorinishi, Ota-ku, Tokyo, 143-8541, Japan. yuuichi.ishikawa@med.toho-u.ac.jp.
authors: Yuichi
authors: Y
authors: Ishikawa
authors: Department of Radiology, Toho University School of Medicine, 6-11-1 Omorinishi, Ota-ku, Tokyo, 143-8541, Japan. nobuyuki.shiraga@med.toho-u.ac.jp.
authors: Nobuyuki
authors: N
authors: Shiraga
authors: Division of Neurology, Department of Internal Medicine, Toho University School of Medicine, 6-11-1 Omorinishi, Ota-ku, Tokyo, 143-8541, Japan. keni@med.toho-u.ac.jp.
authors: Ken
authors: K
authors: Ikeda
authors: Division of Neurology, Department of Internal Medicine, Toho University School of Medicine, 6-11-1 Omorinishi, Ota-ku, Tokyo, 143-8541, Japan. yaso@med.toho-u.ac.jp.
authors: Yasuo
authors: Y
authors: Iwasaki
mesh_terms: D000368:Aged; D001921:Brain / Q000473:pathology; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D003704:Dementia / Q000209:etiology; D005091:Exons; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009154:Mutation; D013116:Spinal Cord / Q000473:pathology; D019294:Xanthomatosis, Cerebrotendinous / Q000235:genetics / Q000503:physiopathology*
chemical_list: D053493:Cholestanetriol 26-Monooxygenase