Speciality
Spotlight

 




 


Neurology


 

 






Huntington’s
Disease

     

  • V
    Hahn-Barma, B Deweer, A Durr, et al [ Hopital de la
    Salpetriere, Paris, Hopital Cochin, Paris; Chateau
    de Longchamp, Paris]


    Are cognitive Changes the First Symptoms of
    Huntington’s Disease? A Study of Gene Carriers





    J Neurol Neurosurg Psychiatry 64; 172-177, 1998


       


    This
    study assessed the presence of early subtle
    cognitive deficits in symptom-free carriers of the
    Huntington’s disease gene.

        

    The
    authors conclude that Huntington’s disease gene
    carriers without symptoms, who show deficits on
    cognitive tests already have the disease, even
    though motor and psychiatric changes have yet to
    develop. The authors plan further studies to test
    this hypothesis.

         

Prion
Diseases

    

  • SB
    Prusiner [Univ of California, San Francisco]

    Prion Diseases and the BSE Crises

    Science
    278: 245-251, 1997

       

    The prion diseases – including scrapie in
    sheep, bovine spongiform encephalopathy [BSE]in
    cattle, and creutzfeldt-Jakob disease [CJD] in human
    beings – result from accumulation of a
    posttranslationally modified protein.

      

    This article reviews the current understanding of
    the prion diseases, including implications for
    prevention and treatment.

      

    Current understanding of
    the prion diseases is reviewed, with special
    reference to the British BSE epidemic and possible
    transmission of animal prions to human beings.

      

    Further study of the pathogenesis of prion diseases
    may yield useful insights into more common
    degenerative diseases, like Alzheimer;s and
    Parkinson’s diseases.

        

  • AF
    Hill, RJ Butterworth, S Joiner, et al [ St Mary’s
    Hosp, National CJD Surveillance Unit, Edinburgh,
    Scotland; Inst. of Psychiatry, London]

    Investigation of Variant Creutzfeldt- Jakob Disease and Other Human
    Prion Diseases With Tonsil Biopsy Samples

    Lancet
    353: 183-189, 1999

      

    Prions
    replicate in lymphoreticular tissue before
    neuroinvasion. Accumulation of all abnormal isoform
    of cellular prion protein [ PrPsc]
    results in prion diseases. Lymphoreticular biopsy
    samples may enable early diagnosis by PrPsc
    detection.

      

    Variant CREUTZFELDT-JAKOB disease [ CJD], in its early stages is difficult to distinguish from common psychiatric disorders. Lymphoreticular tissues from a necropsy series were studied. Tonsillar biopsy samples were assessed in a diagnostic investigation for human prion disease.

        

    In the appropriate clinical context, tonsil biopsy samples positive for PrPsc are diagnostic of variant CJD. Tonsil biopsy obviates the need for brain biopsy. Pathogenesis of variant CJD differs from that of sporadic CJD.

        

 



 

 

Speciality Spotlight

 

 
Neurology
 

 

Huntington’s Disease
     

  • V Hahn-Barma, B Deweer, A Durr, et al [ Hopital de la Salpetriere, Paris, Hopital Cochin, Paris; Chateau de Longchamp, Paris]
    Are cognitive Changes the First Symptoms of Huntington’s Disease? A Study of Gene Carriers
    J Neurol Neurosurg Psychiatry 64; 172-177, 1998
       
    This study assessed the presence of early subtle cognitive deficits in symptom-free carriers of the Huntington’s disease gene.
        
    The authors conclude that Huntington’s disease gene carriers without symptoms, who show deficits on cognitive tests already have the disease, even though motor and psychiatric changes have yet to develop. The authors plan further studies to test this hypothesis.
         

Prion Diseases
    

  • SB Prusiner [Univ of California, San Francisco]
    Prion Diseases and the BSE Crises
    Science 278: 245-251, 1997
       
    The prion diseases – including scrapie in sheep, bovine spongiform encephalopathy [BSE]in cattle, and creutzfeldt-Jakob disease [CJD] in human beings – result from accumulation of a posttranslationally modified protein.
      
    This article reviews the current understanding of the prion diseases, including implications for prevention and treatment.
      
    Current understanding of the prion diseases is reviewed, with special reference to the British BSE epidemic and possible transmission of animal prions to human beings.
      
    Further study of the pathogenesis of prion diseases may yield useful insights into more common degenerative diseases, like Alzheimer;s and Parkinson’s diseases.
        

  • AF Hill, RJ Butterworth, S Joiner, et al [ St Mary’s Hosp, National CJD Surveillance Unit, Edinburgh, Scotland; Inst. of Psychiatry, London]
    Investigation of Variant Creutzfeldt- Jakob Disease and Other Human Prion Diseases With Tonsil Biopsy Samples
    Lancet 353: 183-189, 1999
      
    Prions replicate in lymphoreticular tissue before neuroinvasion. Accumulation of all abnormal isoform of cellular prion protein [ PrPsc] results in prion diseases. Lymphoreticular biopsy samples may enable early diagnosis by PrPsc detection.
      
    Variant CREUTZFELDT-JAKOB disease [ CJD], in its early stages is difficult to distinguish from common psychiatric disorders. Lymphoreticular tissues from a necropsy series were studied. Tonsillar biopsy samples were assessed in a diagnostic investigation for human prion disease.
        
    In the appropriate clinical context, tonsil biopsy samples positive for PrPsc are diagnostic of variant CJD. Tonsil biopsy obviates the need for brain biopsy. Pathogenesis of variant CJD differs from that of sporadic CJD.
        

 

 

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