In the late 19th century, a 32-year-old woman with an enlarged spleen came to the attention of a French physician, named Philippe Gaucher. Unfortunately, the patient died of septicemia. In his thesis, Dr. Gaucher described the unusual pathology of a hitherto unknown disorder, involving accumulation of large cells with striated cytoplasm that affected the spleen as well as the liver and seemed to be a non-malignant proliferation1. In the years thereafter, the clinical picture of Gaucher disease was described in more detail, including the familial pattern of appearance. Also, sub-types affecting the central nervous system, with variable involvement of the liver and spleen were identified.

It took several years before the biochemical basis of Gaucher disease was unraveled. The identification of the accumulated glycosphingolipid, glucocerebroside, in splenic cells led Patrick and Brady to the discovery of the enzyme responsible for cleavage of glucose from ceramide in 1965 by. Deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase, GCase) is the main basis for the occurrence of glucocerebroside accumulation in macrophages. Recently, enzyme misfolding and inflammation have also been suggested to contribute to the pathogenesis of Gaucher disease. Many mutations have so far been identified in the gene for human glucocerebrosidase (GBA1), which has been mapped to chromosome 1q21.

References:
Gaucher P. De l’épithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leukemie. [Thesis]. Paris, 1882.

In the late 19th century, a 32-year-old woman with an enlarged spleen came to the attention of a French physician, named Philippe Gaucher. Unfortunately, the patient died of septicemia. In his thesis, Dr. Gaucher described the unusual pathology of a hitherto unknown disorder, involving accumulation of large cells with striated cytoplasm that affected the spleen as well as the liver and seemed to be a non-malignant proliferation1. In the years thereafter, the clinical picture of Gaucher disease was described in more detail, including the familial pattern of appearance. Also, sub-types affecting the central nervous system, with variable involvement of the liver and spleen were identified.

It took several years before the biochemical basis of Gaucher disease was unraveled. The identification of the accumulated glycosphingolipid, glucocerebroside, in splenic cells led Patrick and Brady to the discovery of the enzyme responsible for cleavage of glucose from ceramide in 1965 by. Deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase, GCase) is the main basis for the occurrence of glucocerebroside accumulation in macrophages. Recently, enzyme misfolding and inflammation have also been suggested to contribute to the pathogenesis of Gaucher disease. Many mutations have so far been identified in the gene for human glucocerebrosidase (GBA1), which has been mapped to chromosome 1q21.

References:
Gaucher P. De l’épithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leukemie. [Thesis]. Paris, 1882.

In the late 19th century, a 32-year-old woman with an enlarged spleen came to the attention of a French physician, named Philippe Gaucher. Unfortunately, the patient died of septicemia. In his thesis, Dr. Gaucher described the unusual pathology of a hitherto unknown disorder, involving accumulation of large cells with striated cytoplasm that affected the spleen as well as the liver and seemed to be a non-malignant proliferation1. In the years thereafter, the clinical picture of Gaucher disease was described in more detail, including the familial pattern of appearance. Also, sub-types affecting the central nervous system, with variable involvement of the liver and spleen were identified.

It took several years before the biochemical basis of Gaucher disease was unraveled. The identification of the accumulated glycosphingolipid, glucocerebroside, in splenic cells led Patrick and Brady to the discovery of the enzyme responsible for cleavage of glucose from ceramide in 1965 by. Deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase, GCase) is the main basis for the occurrence of glucocerebroside accumulation in macrophages. Recently, enzyme misfolding and inflammation have also been suggested to contribute to the pathogenesis of Gaucher disease. Many mutations have so far been identified in the gene for human glucocerebrosidase (GBA1), which has been mapped to chromosome 1q21.

In the late 19th century, a 32-year-old woman with an enlarged spleen came to the attention of a French physician, named Philippe Gaucher. Unfortunately, the patient died of septicemia. In his thesis, Dr. Gaucher described the unusual pathology of a hitherto unknown disorder, involving accumulation of large cells with striated cytoplasm that affected the spleen as well as the liver and seemed to be a non-malignant proliferation1. In the years thereafter, the clinical picture of Gaucher disease was described in more detail, including the familial pattern of appearance. Also, sub-types affecting the central nervous system, with variable involvement of the liver and spleen were identified.

It took several years before the biochemical basis of Gaucher disease was unraveled. The identification of the accumulated glycosphingolipid, glucocerebroside, in splenic cells led Patrick and Brady to the discovery of the enzyme responsible for cleavage of glucose from ceramide in 1965 by. Deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase, GCase) is the main basis for the occurrence of glucocerebroside accumulation in macrophages. Recently, enzyme misfolding and inflammation have also been suggested to contribute to the pathogenesis of Gaucher disease. Many mutations have so far been identified in the gene for human glucocerebrosidase (GBA1), which has been mapped to chromosome 1q21.

In the late 19th century, a 32-year-old woman with an enlarged spleen came to the attention of a French physician, named Philippe Gaucher. Unfortunately, the patient died of septicemia. In his thesis, Dr. Gaucher described the unusual pathology of a hitherto unknown disorder, involving accumulation of large cells with striated cytoplasm that affected the spleen as well as the liver and seemed to be a non-malignant proliferation1. In the years thereafter, the clinical picture of Gaucher disease was described in more detail, including the familial pattern of appearance. Also, sub-types affecting the central nervous system, with variable involvement of the liver and spleen were identified.

It took several years before the biochemical basis of Gaucher disease was unraveled. The identification of the accumulated glycosphingolipid, glucocerebroside, in splenic cells led Patrick and Brady to the discovery of the enzyme responsible for cleavage of glucose from ceramide in 1965 by. Deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase, GCase) is the main basis for the occurrence of glucocerebroside accumulation in macrophages. Recently, enzyme misfolding and inflammation have also been suggested to contribute to the pathogenesis of Gaucher disease. Many mutations have so far been identified in the gene for human glucocerebrosidase (GBA1), which has been mapped to chromosome 1q21.

It took several years before the biochemical basis of Gaucher disease was unraveled. The identification of the accumulated glycosphingolipid, glucocerebroside, in splenic cells led Patrick and Brady to the discovery of the enzyme responsible for cleavage of glucose from ceramide in 1965 by. Deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase, GCase) is the main basis for the occurrence of glucocerebroside accumulation in macrophages. Recently, enzyme misfolding and inflammation have also been suggested to contribute to the pathogenesis of Gaucher disease. Many mutations have so far been identified in the gene for human glucocerebrosidase (GBA1), which has been mapped to chromosome 1q21.