Document Detail

A new familial adult-onset leukodystrophy manifesting as cerebellar ataxia and dementia.
MedLine Citation:
PMID:  11166794     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Among hereditary leukodystrophies, a considerable number remain unclassified. PATIENTS AND 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.
A Tagawa; S Ono; K Inoue; N Hosoi; K Kaneda; M Suzuki; K Nagao; N Shimizu
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  183     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  2001 Jan 
Date Detail:
Created Date:  2001-02-22     Completed Date:  2001-04-12     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  47-55     Citation Subset:  IM    
Department of Neurology, Teikyo University School of Medicine, Ichihara Hospital, Ichihara, Japan.
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MeSH Terms
Age of Onset
Atrophy / pathology
Brain / pathology*
Cerebellar Ataxia / pathology*
Cerebellum / pathology
Dementia / pathology*
Frontal Lobe / pathology
Leukodystrophy, Globoid Cell / genetics,  pathology*
Magnetic Resonance Imaging
Middle Aged
Comment In:
J Neurol Sci. 2001 Jun 15;187(1-2):107, 109   [PMID:  11486760 ]

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