Document Detail

Unique cerebellar-cerebral form of autosomal recessive ataxia.
MedLine Citation:
PMID:  16082159     Owner:  NLM     Status:  MEDLINE    
We describe a unique condition affecting two siblings with a form of progressive spinocerebellar ataxia. After a period of very slowly progressive ataxia, the patients developed an extremely accelerated progression of the condition which consisted of cerebellar ataxia, seizure, progressive dementia and spastic tetraparesis. Age of onset was variable at 7 to 18 years. Brain magnetic resonance image (MRI) showed marked atrophy of the cerebellum and cerebrum with strikingly preserved brainstem dimensions. Biochemical or molecular genetic analysis was performed in an elder sister and her parents to exclude known forms of familial spinocerebellar ataxia, dentatorubral-pallidoluysian atrophy (DRPLA), progressive myoclonic epilepsy, and some metabolic disorders which could have a similar phenotype. The mode of inheritance appears to be autosomal recessive. We think that the affected siblings may have a new type of autosomal recessive cerebellar ataxia.
Etsuro Matsubara; Tetsuya Nagata; Yasuhiko Kageyama; Mito Shiote; Reiko Namba; Isao Nagano; Mikio Shoji; Koji Abe
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Tohoku journal of experimental medicine     Volume:  207     ISSN:  0040-8727     ISO Abbreviation:  Tohoku J. Exp. Med.     Publication Date:  2005 Sep 
Date Detail:
Created Date:  2005-08-05     Completed Date:  2005-09-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417355     Medline TA:  Tohoku J Exp Med     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  81-5     Citation Subset:  IM    
Department of Neurology, Graduate School of Medicine and Dentistry, Okayama University, Okayama, Japan.
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MeSH Terms
Age of Onset
Cerebellar Ataxia / diagnosis*,  pathology*
Cerebellum / metabolism
Disease Progression
Family Health
Genes, Recessive
Magnetic Resonance Imaging
Spinocerebellar Ataxias / metabolism
Telencephalon / metabolism
Tomography, Emission-Computed, Single-Photon

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