Document Detail


Adult forms of metachromatic leukodystrophy: clinical and biochemical approach.
MedLine Citation:
PMID:  1687776     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The clinical and biochemical characteristics of metachromatic leukodystrophy (MLD), true adult forms and late juvenile forms which are still living at adulthood, are reviewed as they both are observed in adult Neurology and Psychiatry departments. Mental deterioration is often the first symptom, evolving progressively; and dementia finally occurs. The latency before the appearance of neurological objective symptoms may be long and extend for several years. In many cases, the behavioral abnormalities are the first symptoms. Some of these forms have been diagnosed as schizophrenia. Very seldom, neurological symptoms, especially ataxia, occur without cognitive or psychiatric disturbances. Most of these cases have pyramidal and cerebellar symptoms, at diverse degrees. Seizures can also occur which is some cases can be early symptoms associated to mental deterioration. The association of central and peripheral neurological symptoms is very characteristic of MLD. The peripheral neuropathy is not generally clinically evidenced, but is rarely missing electrophysiologically. Arylsulfatase A determination should be performed for diagnosis as a first step, and confirmed by the accumulation of sulfatide, either by quantitative determinations in urine or by the sulfatide loading test. It is as yet not clear why certain forms have a rather rapid evolution in 5 years, and others have a very protracted course during decades.
Authors:
N Baumann; M Masson; V Carreau; M Lefevre; N Herschkowitz; J C Turpin
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Developmental neuroscience     Volume:  13     ISSN:  0378-5866     ISO Abbreviation:  Dev. Neurosci.     Publication Date:  1991  
Date Detail:
Created Date:  1992-07-09     Completed Date:  1992-07-09     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7809375     Medline TA:  Dev Neurosci     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  211-5     Citation Subset:  IM    
Affiliation:
INSERM Unit 134, Cellular Molecular and Clinical Neurobiology, Salpêtrière Hospital, Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Ataxia / etiology
Cells, Cultured
Cerebroside-Sulfatase / deficiency
Dementia / etiology
Female
Fibroblasts / enzymology
Humans
Leukocytes / enzymology
Leukodystrophy, Metachromatic* / complications,  diagnosis,  enzymology
Male
Mental Disorders / etiology
Middle Aged
Neural Conduction
Chemical
Reg. No./Substance:
EC 3.1.6.8/Cerebroside-Sulfatase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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