Book contents
- Frontmatter
- Introduction
- Part I Medicine and Disease: An Overview
- Part II Changing Concepts of Health and Disease
- Part III Medical Specialties and Disease Prevention
- Part IV Measuring Health
- Part V The History of Human Disease in the World Outside Asia
- Part VI The History of Human Disease in Asia
- Part VII The Geography of Human Disease
- Part VIII Major Human Diseases Past and Present
- VIII.1 Acquired Immune Deficiency Syndrome (AIDS)
- VIII.2 African Trypanosomiasis (Sleeping Sickness)
- VIII.3 Ainhum
- VIII.4 Alzheimer’s Disease
- VIII.5 Amebic Dysentery
- VIII.6 Anemia
- VIII.7 Anorexia Nervosa
- VIII.8 Anthrax
- VIII.9 Apoplexy and Stroke
- VIII.10 Arboviruses
- VIII.11 Arenaviruses
- VIII.12 Arthritis (Rheumatoid)
- VIII.13 Ascariasis
- VIII.14 Bacillary Dysentery
- VIII.15 Beriberi
- VIII.16 Black Death
- VIII.17 Black and Brown Lung Disease
- VIII.18 Bleeding Disorders
- VIII.19 Botulism
- VIII.20 Brucellosis
- VIII.21 Bubonic Plague
- VIII.22 Carrión’s Disease
- VIII.23 Catarrh
- VIII.24 Cestode Infections
- VIII.25 Chagas’ Disease
- VIII.26 Chlorosis
- VIII.27 Cholera
- VIII.28 Cirrhosis
- VIII.29 Clonorchiasis
- VIII.30 Croup
- VIII.31 Cystic Fibrosis
- VIII.32 Cytomegalovirus Infection
- VIII.33 Dengue
- VIII.34 Diabetes
- VIII.35 Diarrheal Diseases (Acute)
- VIII.36 Diphtheria
- VIII.37 Down Syndrome
- VIII.38 Dracunculiasis
- VIII.39 Dropsy
- VIII.40 Dysentery
- VIII.41 Dyspepsia
- VIII.42 Ebola Virus Disease
- VIII.43 Echinococcosis (Hydatidosis)
- VIII.44 Eclampsia
- VIII.45 Emphysema
- VIII.46 Encephalitis Lethargica
- VIII.47 Enterobiasis
- VIII.48 Epilepsy
- VIII.49 Ergotism
- VIII.50 Erysipelas
- VIII.51 Fascioliasis
- VIII.52 Fasciolopsiasis
- VIII.53 Favism
- VIII.54 Filariasis
- VIII.55 Fungus Infections (Mycoses)
- VIII.56 Fungus Poisoning
- VIII.57 Gallstones (Cholelithiasis)
- VIII.58 Gangrene
- VIII.59 Giardiasis
- VIII.60 Glomerulonephritis (Bright’s Disease)
- VIII.61 Goiter
- VIII.62 Gonorrhea
- VIII.63 Gout
- VIII.64 Herpes Simplex
- VIII.65 Herpesviruses
- VIII.66 Histoplasmosis
- VIII.67 Hookworm Disease
- VIII.68 Huntington’s Disease (Chorea)
- VIII.69 Hypertension
- VIII.70 Infectious Hepatitis
- VIII.71 Infectious Mononucleosis
- VIII.72 Inflammatory Bowel Disease
- VIII.73 Influenza
- VIII.74 Japanese B Encephalitis
- VIII.75 Lactose Intolerance and Malabsorption
- VIII.76 Lassa Fever
- VIII.77 Lead Poisoning
- VIII.78 Legionnaires’ Disease
- VIII.79 Leishmaniasis
- VIII.80 Leprosy
- VIII.81 Leptospirosis
- VIII.82 Leukemia
- VIII.83 Lupus Erythematosus
- VIII.84 Lyme Borreliosis (Lyme Disease)
- VIII.85 Malaria
- VIII.86 Marburg Virus Disease
- VIII.87 Mastoiditis
- VIII.88 Measles
- VIII.89 Meningitis
- VIII.90 Milk Sickness (Tremetol Poisoning)
- VIII.91 Multiple Sclerosis
- VIII.92 Mumps
- VIII.93 Muscular Dystrophy
- VIII.94 Myasthenia Gravis
- VIII.95 Nematode Infections
- VIII.96 Onchocerciasis
- VIII.97 Ophthalmia (Conjunctivitis and Trachoma)
- VIII.98 Osteoarthritis
- VIII.99 Osteoporosis
- VIII.100 Paget’s Disease of Bone
- VIII.101 Paragonimiasis
- VIII.102 Parkinson’s Disease
- VIII.103 Pellagra
- VIII.104 Periodontal Disease (Pyorrhea)
- VIII.105 Pica
- VIII.106 Pinta
- VIII.107 Plague of Athens
- VIII.108 Pneumocystis Pneumonia (Interstitial Plasma Cell Pneumonia, Pneumocystosis)
- VIII.109 Pneumonia
- VIII.110 Poliomyelitis
- VIII.111 Protein-Energy Malnutrition
- VIII.112 Protozoan Infections
- VIII.113 Puerperal Fever
- VIII.114 Q Fever
- VIII.115 Rabies
- VIII.116 Relapsing Fever
- VIII.117 Rheumatic Fever and Rheumatic Heart Disease
- VIII.118 Rickets and Osteomalacia
- VIII.119 Rickettsial Diseases
- VIII.120 Rocky Mountain Spotted Fever and the Spotted Fever Group Diseases
- VIII.121 Rubella
- VIII.122 St. Anthony’s Fire
- VIII.123 Scarlet Fever
- VIII.124 Schistosomiasis
- VIII.125 Scrofula (Scrophula)
- VIII.126 Scurvy
- VIII.127 Sickle-Cell Anemia
- VIII.128 Smallpox
- VIII.129 Streptococcal Diseases
- VIII.130 Strongyloidiasis
- VIII.131 Sudden Infant Death Syndrome
- VIII.132 Sudden Unexplained Death Syndrome (Asian)
- VIII.133 Sweating Sickness
- VIII.134 Syphilis
- VIII.135 Syphilis, Nonvenereal
- VIII.136 Tapeworm
- VIII.137 Tay-Sachs Disease
- VIII.138 Tetanus
- VIII.139 Tetanus, Neonatal
- VIII.140 Tetany
- VIII.141 Toxoplasmosis
- VIII.142 Trematode Infections
- VIII.143 Trench Fever
- VIII.144 The Treponematoses
- VIII.145 Trichinosis
- VIII.146 Trichuriasis
- VIII.147 Tuberculosis
- VIII.148 Tularemia
- VIII.149 Typhoid Fever
- VIII.150 Typhomalarial Fever
- VIII.151 Typhus, Epidemic
- VIII.152 Typhus, Murine
- VIII.153 Typhus, Scrub (Tsutsugamushi)
- VIII.154 Urolithiasis (Renal and Urinary Bladder Stone Disease)
- VIII.155 Varicella Zoster
- VIII.156 Whooping Cough
- VIII.157 Yaws
- VIII.158 Yellow Fever
- Indexes
- References
VIII.137 - Tay-Sachs Disease
from Part VIII - Major Human Diseases Past and Present
Published online by Cambridge University Press: 28 March 2008
Edited by
Book contents
- Frontmatter
- Introduction
- Part I Medicine and Disease: An Overview
- Part II Changing Concepts of Health and Disease
- Part III Medical Specialties and Disease Prevention
- Part IV Measuring Health
- Part V The History of Human Disease in the World Outside Asia
- Part VI The History of Human Disease in Asia
- Part VII The Geography of Human Disease
- Part VIII Major Human Diseases Past and Present
- VIII.1 Acquired Immune Deficiency Syndrome (AIDS)
- VIII.2 African Trypanosomiasis (Sleeping Sickness)
- VIII.3 Ainhum
- VIII.4 Alzheimer’s Disease
- VIII.5 Amebic Dysentery
- VIII.6 Anemia
- VIII.7 Anorexia Nervosa
- VIII.8 Anthrax
- VIII.9 Apoplexy and Stroke
- VIII.10 Arboviruses
- VIII.11 Arenaviruses
- VIII.12 Arthritis (Rheumatoid)
- VIII.13 Ascariasis
- VIII.14 Bacillary Dysentery
- VIII.15 Beriberi
- VIII.16 Black Death
- VIII.17 Black and Brown Lung Disease
- VIII.18 Bleeding Disorders
- VIII.19 Botulism
- VIII.20 Brucellosis
- VIII.21 Bubonic Plague
- VIII.22 Carrión’s Disease
- VIII.23 Catarrh
- VIII.24 Cestode Infections
- VIII.25 Chagas’ Disease
- VIII.26 Chlorosis
- VIII.27 Cholera
- VIII.28 Cirrhosis
- VIII.29 Clonorchiasis
- VIII.30 Croup
- VIII.31 Cystic Fibrosis
- VIII.32 Cytomegalovirus Infection
- VIII.33 Dengue
- VIII.34 Diabetes
- VIII.35 Diarrheal Diseases (Acute)
- VIII.36 Diphtheria
- VIII.37 Down Syndrome
- VIII.38 Dracunculiasis
- VIII.39 Dropsy
- VIII.40 Dysentery
- VIII.41 Dyspepsia
- VIII.42 Ebola Virus Disease
- VIII.43 Echinococcosis (Hydatidosis)
- VIII.44 Eclampsia
- VIII.45 Emphysema
- VIII.46 Encephalitis Lethargica
- VIII.47 Enterobiasis
- VIII.48 Epilepsy
- VIII.49 Ergotism
- VIII.50 Erysipelas
- VIII.51 Fascioliasis
- VIII.52 Fasciolopsiasis
- VIII.53 Favism
- VIII.54 Filariasis
- VIII.55 Fungus Infections (Mycoses)
- VIII.56 Fungus Poisoning
- VIII.57 Gallstones (Cholelithiasis)
- VIII.58 Gangrene
- VIII.59 Giardiasis
- VIII.60 Glomerulonephritis (Bright’s Disease)
- VIII.61 Goiter
- VIII.62 Gonorrhea
- VIII.63 Gout
- VIII.64 Herpes Simplex
- VIII.65 Herpesviruses
- VIII.66 Histoplasmosis
- VIII.67 Hookworm Disease
- VIII.68 Huntington’s Disease (Chorea)
- VIII.69 Hypertension
- VIII.70 Infectious Hepatitis
- VIII.71 Infectious Mononucleosis
- VIII.72 Inflammatory Bowel Disease
- VIII.73 Influenza
- VIII.74 Japanese B Encephalitis
- VIII.75 Lactose Intolerance and Malabsorption
- VIII.76 Lassa Fever
- VIII.77 Lead Poisoning
- VIII.78 Legionnaires’ Disease
- VIII.79 Leishmaniasis
- VIII.80 Leprosy
- VIII.81 Leptospirosis
- VIII.82 Leukemia
- VIII.83 Lupus Erythematosus
- VIII.84 Lyme Borreliosis (Lyme Disease)
- VIII.85 Malaria
- VIII.86 Marburg Virus Disease
- VIII.87 Mastoiditis
- VIII.88 Measles
- VIII.89 Meningitis
- VIII.90 Milk Sickness (Tremetol Poisoning)
- VIII.91 Multiple Sclerosis
- VIII.92 Mumps
- VIII.93 Muscular Dystrophy
- VIII.94 Myasthenia Gravis
- VIII.95 Nematode Infections
- VIII.96 Onchocerciasis
- VIII.97 Ophthalmia (Conjunctivitis and Trachoma)
- VIII.98 Osteoarthritis
- VIII.99 Osteoporosis
- VIII.100 Paget’s Disease of Bone
- VIII.101 Paragonimiasis
- VIII.102 Parkinson’s Disease
- VIII.103 Pellagra
- VIII.104 Periodontal Disease (Pyorrhea)
- VIII.105 Pica
- VIII.106 Pinta
- VIII.107 Plague of Athens
- VIII.108 Pneumocystis Pneumonia (Interstitial Plasma Cell Pneumonia, Pneumocystosis)
- VIII.109 Pneumonia
- VIII.110 Poliomyelitis
- VIII.111 Protein-Energy Malnutrition
- VIII.112 Protozoan Infections
- VIII.113 Puerperal Fever
- VIII.114 Q Fever
- VIII.115 Rabies
- VIII.116 Relapsing Fever
- VIII.117 Rheumatic Fever and Rheumatic Heart Disease
- VIII.118 Rickets and Osteomalacia
- VIII.119 Rickettsial Diseases
- VIII.120 Rocky Mountain Spotted Fever and the Spotted Fever Group Diseases
- VIII.121 Rubella
- VIII.122 St. Anthony’s Fire
- VIII.123 Scarlet Fever
- VIII.124 Schistosomiasis
- VIII.125 Scrofula (Scrophula)
- VIII.126 Scurvy
- VIII.127 Sickle-Cell Anemia
- VIII.128 Smallpox
- VIII.129 Streptococcal Diseases
- VIII.130 Strongyloidiasis
- VIII.131 Sudden Infant Death Syndrome
- VIII.132 Sudden Unexplained Death Syndrome (Asian)
- VIII.133 Sweating Sickness
- VIII.134 Syphilis
- VIII.135 Syphilis, Nonvenereal
- VIII.136 Tapeworm
- VIII.137 Tay-Sachs Disease
- VIII.138 Tetanus
- VIII.139 Tetanus, Neonatal
- VIII.140 Tetany
- VIII.141 Toxoplasmosis
- VIII.142 Trematode Infections
- VIII.143 Trench Fever
- VIII.144 The Treponematoses
- VIII.145 Trichinosis
- VIII.146 Trichuriasis
- VIII.147 Tuberculosis
- VIII.148 Tularemia
- VIII.149 Typhoid Fever
- VIII.150 Typhomalarial Fever
- VIII.151 Typhus, Epidemic
- VIII.152 Typhus, Murine
- VIII.153 Typhus, Scrub (Tsutsugamushi)
- VIII.154 Urolithiasis (Renal and Urinary Bladder Stone Disease)
- VIII.155 Varicella Zoster
- VIII.156 Whooping Cough
- VIII.157 Yaws
- VIII.158 Yellow Fever
- Indexes
- References
Summary
Tay-Sachs disease (TSD) is the best known of the sphingolipidoses, a group of genetic disorders that includes Niemann-Pick disease, Gaucher’s disease, and others. Specifically, TSD is GM2 (beta) gangliosidosis, an autosomal recessive disease with complete penetrance. Affected individuals (recessive homozygotes) produce virtually no functional hexosaminidase A (hex A), an enzyme necessary for normal neurological development and function. TSD is very rare in most populations, but is, overall, about 100 times more prevalent among Ashkenazi Jews. This indicates that the TSD gene frequency is about 10 times higher in the Ashkenazi Jewish population. Persons with the disease usually show clinical symptoms of neurological degeneration by 6 months of age. Their condition steadily deteriorates, and they seldom live beyond the age of 4 years. There is no cure, but heterozygous “carriers” of the defective gene can be identified by clinical test, and amniocentesis can detect an affected fetus.
History
The British ophthalmologist Warren Tay (1881) first reported some of the early clinical signs of TSD. In the United States, Bernard Sachs (1887) further documented the clinical course and pathology of the disease he later called “amaurotic family idiocy” (Sachs 1896). 1896). It was Sachs who first noted the familial nature of the disease, and its seemingly exclusive occurrence in Jewish families. However, reports were soon made of non-Jewish cases. D. Slome (1933) was the first to survey the literature on the population characteristics of TSD and confirmed the disease’s autosomal recessive mode of transmission as well as the TSD gene’s higher frequency among Jews.
- Type
- Chapter
- Information
- The Cambridge World History of Human Disease , pp. 1036 - 1043Publisher: Cambridge University PressPrint publication year: 1993
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