Document Detail


Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign.
MedLine Citation:
PMID:  1880538     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A large kindred, in which either Leber's hereditary optic atrophy, or a hereditary spastic dystonia, or a combination of both manifested over many generations was restudied after the first report on it in 1964. NMR scans revealed bilateral, and, in two patients with hemidystonia, unilateral necrosis with shrinkage of the putamen, in one case associated with total disappearance of the head of the caudate nucleus. Except for age-appropriate cortical atrophy in one instance, no other changes were observed in the brain, brainstem, and cerebellum. The putaminal necrosis appears as typical "striatal slits" on the NMR scans. It is argued that this rare disease, since the princeps description in 1964 only reported in England (1986) and the U.S.A (1986), is most likely a singular type of mitochondrial encephalopathy: it is associated with Leber's optic atrophy, and the NMR changes observed have been signalled in other mitochondrial encephalomyelopathies, such as Leigh's disease and MELAS.
Authors:
G W Bruyn; G J Vielvoye; L N Went
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  103     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  1991 Jun 
Date Detail:
Created Date:  1991-09-30     Completed Date:  1991-09-30     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  195-202     Citation Subset:  IM    
Affiliation:
Department of Neurology, State University, Leiden, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Brain Diseases / diagnosis*,  genetics
Dystonia / diagnosis*,  genetics
Female
Humans
Magnetic Resonance Spectroscopy / diagnostic use
Male
Middle Aged
Mitochondria / physiology*
Muscle Spasticity / diagnosis*,  genetics
Necrosis
Optic Atrophies, Hereditary / diagnosis
Pedigree
Putamen / pathology*

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


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