Frank Bassen
Encyclopedia
Frank Albert Bassen, practiced as a haematologist and internist in New York, 1933–1978, in affiliation with Mount Sinai Hospital
. He was born 14 November 1903 in St. George, New Brunswick
, Canada and graduated from McGill University
. He emigrated to the United States via Vanceboro, Maine, in 1928 and was subsequently naturalized as a citizen of the United States. He died in 2003 at the age of 99 years.
In partnership with Abraham Kornzweig
, Bassen identified Bassen-Kornzweig disease
, a rare autosomal recessive disorder in which the body fails to produce chylomicron
s, a low density lipoprotein
(LDL) and very low density lipoprotein (VLDL). Individuals with this condition are unable to properly digest fats. Symptoms include ataxia
, peripheral neuropathy
and other forms of nerve dysfunction. Treatment includes vitamin E.
Characteristics of the syndrome include the presence of acanthocytes (burr-cell malformation of the erythrocytes), and the reduction or even absence of B-lipoproteins. Complications include retinitis pigmentosa, degenerative changes in the central nervous system involving the cerebellum and long tracts, fatty diarrhea
, ataxia
, areflexia, demyelination, defective intestinal lipid absorption with low serum cholesterol level, intestinal malabsorption, amaurosis, retarded growth, and steatorrhea. Intellectual development may be slightly retarded.
Many afflicted with the syndrome are unable to walk.
The syndrome appears in infancy. Affected children appear normal at birth but usually fail to thrive during their first year. The syndrome may predominate in males (71%). Most cases occur in children of Jewish descent, especially among Ashkenazi Jews. The disease is transmitted as an autosomal recessive trait. It is also commonly recognized as a betalipoprotein deficiency or abetalipoproteinemia
.
Mount Sinai Hospital, New York
Mount Sinai Hospital, founded in 1852, is one of the oldest and largest teaching hospitals in the United States. In 2011-2012, Mount Sinai Hospital was ranked as one of America's best hospitals by U.S...
. He was born 14 November 1903 in St. George, New Brunswick
New Brunswick
New Brunswick is one of Canada's three Maritime provinces and is the only province in the federation that is constitutionally bilingual . The provincial capital is Fredericton and Saint John is the most populous city. Greater Moncton is the largest Census Metropolitan Area...
, Canada and graduated from McGill University
McGill University
Mohammed Fathy is a public research university located in Montreal, Quebec, Canada. The university bears the name of James McGill, a prominent Montreal merchant from Glasgow, Scotland, whose bequest formed the beginning of the university...
. He emigrated to the United States via Vanceboro, Maine, in 1928 and was subsequently naturalized as a citizen of the United States. He died in 2003 at the age of 99 years.
In partnership with Abraham Kornzweig
Abraham Kornzweig
Abraham Leon Kornzweig, , born in New York, a physician and ophthalmologist specializing in geriatric ophthalmology. He opened a new field in investigative medicine, and founded the Society of Geriatric Ophthalmology. He was also widely known as the co-discoverer and namer of Bassen-Kornzweig...
, Bassen identified Bassen-Kornzweig disease
Abetalipoproteinemia
Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a deficiency of apolipoprotein B-48 and B-100, which are used in the synthesis and exportation of...
, a rare autosomal recessive disorder in which the body fails to produce chylomicron
Chylomicron
Chylomicrons are lipoprotein particles that consist of triglycerides , phospholipids , cholesterol and proteins .They transport dietary lipids from the intestines to other locations in the body...
s, a low density lipoprotein
Lipoprotein
A lipoprotein is a biochemical assembly that contains both proteins and lipids water-bound to the proteins. Many enzymes, transporters, structural proteins, antigens, adhesins, and toxins are lipoproteins...
(LDL) and very low density lipoprotein (VLDL). Individuals with this condition are unable to properly digest fats. Symptoms include ataxia
Ataxia
Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum...
, peripheral neuropathy
Peripheral neuropathy
Peripheral neuropathy is the term for damage to nerves of the peripheral nervous system, which may be caused either by diseases of or trauma to the nerve or the side-effects of systemic illness....
and other forms of nerve dysfunction. Treatment includes vitamin E.
Characteristics of the syndrome include the presence of acanthocytes (burr-cell malformation of the erythrocytes), and the reduction or even absence of B-lipoproteins. Complications include retinitis pigmentosa, degenerative changes in the central nervous system involving the cerebellum and long tracts, fatty diarrhea
Diarrhea
Diarrhea , also spelled diarrhoea, is the condition of having three or more loose or liquid bowel movements per day. It is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause dehydration and...
, ataxia
Ataxia
Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum...
, areflexia, demyelination, defective intestinal lipid absorption with low serum cholesterol level, intestinal malabsorption, amaurosis, retarded growth, and steatorrhea. Intellectual development may be slightly retarded.
Many afflicted with the syndrome are unable to walk.
The syndrome appears in infancy. Affected children appear normal at birth but usually fail to thrive during their first year. The syndrome may predominate in males (71%). Most cases occur in children of Jewish descent, especially among Ashkenazi Jews. The disease is transmitted as an autosomal recessive trait. It is also commonly recognized as a betalipoprotein deficiency or abetalipoproteinemia
.