Document Detail


Familial amyotrophic lateral sclerosis with posterior column degeneration and basophilic inclusion bodies: a clinical, genetic and pathological study.
MedLine Citation:
PMID:  11327297     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report an autopsy case of familial amyotrophic lateral sclerosis (FALS). The patient was a Japanese woman with hereditary burden. Family history revealed 12 patients with FALS over four generations. She developed muscle weakness of the proximal part of the upper extremities at age 42, followed by dysarthria, dysphagia, muscle weakness and atrophy in the lower extremities, spasticity, hyperreflexia and Babinski's sign. At age 44, she needed ventilatory support. At age 45, she died of bronchopneumonia. The total duration of the disease was three years and one month. Genetic study showed the absence of a mutation in the Cu/Zn superoxide dismutase-1 gene. Neuropathological examination revealed not only neuronal loss in the upper and lower motor neuron and Clarke's column, but also degeneration of the pyramidal tracts, middle root zone of the posterior column and posterior spinocerebellar tract. Bunina bodies and Lewy body-like inclusion bodies were absent. A few basophilic inclusion bodies were present in the neurons of the brain stem and anterior horn of the lumbar cord. Based on these clinical, genetic and pathological findings with a review of the literature, we concluded that our case was the first reported case of FALS with posterior column involvement and basophilic inclusion bodies.
Authors:
K Tsuchiya; T Matsunaga; M Aoki; C Haga; K Ooe; K Abe; K Ikeda; I Nakano
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical neuropathology     Volume:  20     ISSN:  0722-5091     ISO Abbreviation:  Clin. Neuropathol.     Publication Date:    2001 Mar-Apr
Date Detail:
Created Date:  2001-04-30     Completed Date:  2001-08-30     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8214420     Medline TA:  Clin Neuropathol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  53-9     Citation Subset:  IM    
Affiliation:
Department of Laboratory Medicine and Pathology, Metropolitan Matsuzawa Hospital, Tokyo, Japan. ktsuchi@dd.mbn.or.jp
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MeSH Terms
Descriptor/Qualifier:
Adult
DNA Mutational Analysis
Female
Follow-Up Studies
Humans
Inclusion Bodies / pathology*
Middle Aged
Motor Neuron Disease / genetics*,  pathology
Nerve Degeneration / genetics*,  pathology
Neurons / pathology
Pedigree
Posterior Horn Cells / pathology*
Pyramidal Tracts / pathology*
Spinal Nerve Roots / pathology*
Spinocerebellar Tracts / pathology*
Superoxide Dismutase / genetics
Chemical
Reg. No./Substance:
EC 1.15.1.1/Superoxide Dismutase

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