American Journal of Medical Genetics 21:793-794 (1985)

Book Review Gaucher Disease: A Century of Delineation and Research. Robert J. Desnick, Shimon Gatt, Gregory A. Grabowski (eds). New York: Alan R. Liss, Inc., 1982.

Publication of “Gaucher Disease: A Century of Delineation and Research (Dr. R.J. Desnick, Dr. S. Gatt, and Dr. G.A. Grabowski, eds.) lifts Gaucher disease from the obscurity of an “allied disease” and endows it with status, with symposia (The First International), and proceedings of its own. The book’s existence, furthermore, clearly asserts the need for independent sources of research support.

The proceedings, made up of papers from over 30 institutions worldwide, read with the clarity and order of a clinical history. The initial section, “Clinical Manifes- tations-” (preceded by Desnick’ s overview), defines the three major phenotypes and focuses on the clinical significance of the respective components. The section “Mor- phologic and Chemical Pathology” presents the pathognomonic laboratory findings, including cellular, gross anatomic, and biochemical abnormalities.

One-fourth of the text-some of it repetitive-is devoted to “Molecular Pathol- ogy, ” chiefly to investigations characterizing the enzyme, glucocerebrosidase. Pa- trick’s lucid analysis and Brady’s cameo narrative of the enzyme defect’s discovery are central to the symposium’s calling and give perspective to the entire proceedings. Subsequent chapters reflect the ingenuity investigators need to approach the core problem, one of placing the disease’s variable expressions on a molecular footing. The Bethesda paper, stressing the significance of tissue-specific isozymes, is espe- cially readable-clear, concise, and insightful.

A fourth section, “Genetics and Epidemiology, ” embraces reports on biochem- ical heterogeneity (in relation to ethnicity), gene mapping (to chromosome l), and social studies (of the Ashkenazim). The fifth section, “Diagnosis and Management,” stresses identification of carriers (three papers) and management by splenectomy and orthopedic approaches, respectively.

The section “Animal Analogues and Therapeutic Prospects” ends the proceed- ings with forward-looking statements, leaving us with a man-made model to work on, the incentive to search for the disease in the animal (dog) world, the hope that future attempts to replace the defective enzyme will be successful, and the feeling that Dr. Desnick and colleagues will convene another fruitful symposium in the near future.

Just a few complaints. One wonders at the absence of recorded (published) “floor” discussion. The index is tailored (and tightly so), rather than standard. The listing of “Other Titles in the Publisher’s Series” on the first and last pages is

0 1985 Alan R. Liss, Inc.

794 Kelly

disconcerting, especially when looking for a nonexistent name index. Condensation of parts of the text would not have devalued it-and would have spared the reader the methodological details, potential pitfalls, and standardization procedures a few inves- tigators felt compelled to document here. The proceedings would have read with more “sym” had the editors replaced repetitious parts (usually introductions) with cross references.

The price, $76, is within reach of the anticipated reader (“clinicians, clinical investigators and scientists”); the need for individual ownership, however, may be more sentimental than practical, as the molecular revolution’s “guns” close in on Gaucher disease.

Overall, the volume meets the symposium proceeding’s tangible goal of provid- ing a single resource that assembles the current information on Gaucher disease.

Sally Kelly Wadsworth Center for

Laboratories and Research New York State Department of

Health Albany, NY