title: A new familial adult-onset leukodystrophy manifesting as cerebellar ataxia and dementia.
abstract: BACKGROUND
  Among hereditary leukodystrophies, a considerable number remain unclassified.
  
  
  RESULTS
  We investigated the clinical course and histopathology of one patient in a family of adult-onset leukodystrophy with possible dominant inheritance. A 44-year-old man presented with cerebellar ataxia as the initial symptom, and later, dementia and hyperreflexia with ankle clonus developed. T2-weighted brain MRI showed brain atrophy and diffuse high signal intensity of the cerebral white matter and the brain stem. The patient's mother and older brother also had cerebellar ataxia and dementia, and his older brother had been diagnosed as having spinocerebellar degeneration. An older sister of our patient possibly had similar neurological symptoms of adult-onset. Our patient died of pneumonia 5 years after the onset of disease. The histopathological findings consisted mainly of patchily observed vacuolar changes in the cerebral and cerebellar white matter and the brain stem. The subcortical regions and the cortex were unaffected. It is suggested that the pathological changes began in the cerebellum, and later spread to the frontal lobe and the brain stem. In the occipital regions, the vacuolations were associated with accumulation of macrophages and astrocytosis, which implied that the vacuolations were of recent origin.
  
  
  CONCLUSIONS
  The diagnosis in this patient is adult-onset leukodystrophy with possibly autosomal dominant inheritance. The clinicopathological features are different from those, of previously reported adult-onset leukodystrophies.
authors.affiliation: Department of Neurology, Teikyo University School of Medicine, Ichihara Hospital, Ichihara, Japan. asako-m@med.teikyo-u.ac.jp
authors.forename: A
authors.initials: A
authors.lastname: Tagawa
authors.forename: S
authors.initials: S
authors.lastname: Ono
authors.forename: K
authors.initials: K
authors.lastname: Inoue
authors.forename: N
authors.initials: N
authors.lastname: Hosoi
authors.forename: K
authors.initials: K
authors.lastname: Kaneda
authors.forename: M
authors.initials: M
authors.lastname: Suzuki
authors.forename: K
authors.initials: K
authors.lastname: Nagao
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
mesh_terms: D000328:Adult; D017668:Age of Onset; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002524:Cerebellar Ataxia / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D003704:Dementia / Q000473:pathology*; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree