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100th anniversary of Perusini's second case: patient RM and his kindred
Birgit Braun1, Marion Stadlober-Degwerth, Göran Hajak
1Department of Psychiatry, University of Regensburg School of Medicine, Regensburg, Germany. birgit-braun@gmx.net
Abstract:
The first 4 cases of Alzheimer's disease published by Alois Alzheimer's laboratory were authored by the young Italian physician Gaetano Perusini. In his discourse, ''Uber klinisch und histologisch eigenartige Erkrankungen des späteren Lebensalters'' Perusini describes 4 cases of histological and clinical findings of peculiar psychiatric diseases of older age. With regard to case number II, Perusini remarks ''since 1899 RM has psychically changed.'' As RM is said to be 45 years of age on admission, this would imply the obvious onset of disease at the early age of 37. A detailed analysis of archival material revealed that RM was actually 10 years older. Perusini's hint that ''one of the patient's brothers does not seem to be normal'' initiated our search for this individual to rule out an autosomal dominant inheritance in this kindred. We initiated genealogical studies over 8 generations to get more detailed information about this early case of psychiatric history.
Insights
Gaetano Perusini
Area of Science:
- Neurology
- Psychiatry
- Medical History
Background:
- Review of Gaetano Perusini's early case studies on psychiatric diseases of older age.
- Focus on Case II: analysis of patient RM's age at disease onset.
- Investigation into potential autosomal dominant inheritance within RM's family.
Discussion:
- Correction of RM's age at admission, indicating a later onset than initially reported.
- Exploration of Perusini's observations regarding RM's brother.
- Initiation of extensive genealogical research to trace familial history over eight generations.
Key Insights:
- Archival analysis revised RM's age, impacting the understanding of early-onset disease.
- Genealogical study initiated to investigate potential genetic links in an early Alzheimer's case.
- Highlights the importance of meticulous historical record analysis in neurodegenerative disease research.
Outlook:
- Further elucidation of the genetic factors contributing to early-onset Alzheimer's disease.
- Potential to refine historical timelines and understanding of disease progression.
- Contribution to the broader study of familial Alzheimer's disease pedigrees.
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