Fahr's syndrome
Encyclopedia
Idiopathic Basal Ganglia Calcification, also known as Fahr disease or Fahr’s Syndrome is a rare, genetically dominant
, inherited neurological
disorder characterized by abnormal deposits of calcium
in areas of the brain
that control movement, including the basal ganglia
and the cerebral cortex
. It is a rare degenerative neurological disorder characterized by calcifications and cell loss within the basal ganglia
.
A locus at 14q has been suggested, but no gene has been identified. However, basal ganglia calcification can occur as a consequence of other known genetic conditions.
neurologist Karl Theodor Fahr
in 1930. A less common name for the condition is Chavany-Brunhes syndrome and Fritsche’s syndrome, the former named after Jacques Brunhes, Jean Alfred Émile Chavany, while the later named after R. Fritsche.
for Fahr’s Syndrome, nor is there a standard course of treatment. Treatment addresses symptoms on an individual basis. Case reports have suggested that haloperidol
or lithium carbonate
may help with psychotic symptoms.
The prognosis for any individual with Fahr’s Syndrome is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. Since the appearance of calcification is age-dependent, a CT scan could be negative in a gene carrier who is younger than the age of 55.
Progressive neurological deterioration generally results in disability and death.
located in Bethesda
, Maryland
.
Dominance relationship
Dominance in genetics is a relationship between two variant forms of a single gene, in which one allele masks the effect of the other in influencing some trait. In the simplest case, if a gene exists in two allelic forms , three combinations of alleles are possible: AA, AB, and BB...
, inherited neurological
Neurology
Neurology is a medical specialty dealing with disorders of the nervous system. Specifically, it deals with the diagnosis and treatment of all categories of disease involving the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and all effector tissue,...
disorder characterized by abnormal deposits of calcium
Calcium
Calcium is the chemical element with the symbol Ca and atomic number 20. It has an atomic mass of 40.078 amu. Calcium is a soft gray alkaline earth metal, and is the fifth-most-abundant element by mass in the Earth's crust...
in areas of the brain
Brain
The brain is the center of the nervous system in all vertebrate and most invertebrate animals—only a few primitive invertebrates such as sponges, jellyfish, sea squirts and starfishes do not have one. It is located in the head, usually close to primary sensory apparatus such as vision, hearing,...
that control movement, including the basal ganglia
Basal ganglia
The basal ganglia are a group of nuclei of varied origin in the brains of vertebrates that act as a cohesive functional unit. They are situated at the base of the forebrain and are strongly connected with the cerebral cortex, thalamus and other brain areas...
and the cerebral cortex
Cerebral cortex
The cerebral cortex is a sheet of neural tissue that is outermost to the cerebrum of the mammalian brain. It plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It is constituted of up to six horizontal layers, each of which has a different...
. It is a rare degenerative neurological disorder characterized by calcifications and cell loss within the basal ganglia
Basal ganglia
The basal ganglia are a group of nuclei of varied origin in the brains of vertebrates that act as a cohesive functional unit. They are situated at the base of the forebrain and are strongly connected with the cerebral cortex, thalamus and other brain areas...
.
A locus at 14q has been suggested, but no gene has been identified. However, basal ganglia calcification can occur as a consequence of other known genetic conditions.
History and terminology
The disease was first noted by GermanGermany
Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate...
neurologist Karl Theodor Fahr
Karl Theodor Fahr
Karl Theodor Fahr was a German pathologist who was born in Pirmasens of the Rhineland-Palatinate.In 1903 he earned his medical doctorate from the University of Giessen, and continued his studies with Eugen Bostroem in Giessen, Morris Simmonds in Hamburg and with Ilya Ilyich Metchnikoff in Paris...
in 1930. A less common name for the condition is Chavany-Brunhes syndrome and Fritsche’s syndrome, the former named after Jacques Brunhes, Jean Alfred Émile Chavany, while the later named after R. Fritsche.
Prognosis
There is no cureCure
A cure is a completely effective treatment for a disease.The Cure is an English rock band.Cure, or similar, may also refer to:-Film and television:* The Cure , a short film starring Charlie Chaplin...
for Fahr’s Syndrome, nor is there a standard course of treatment. Treatment addresses symptoms on an individual basis. Case reports have suggested that haloperidol
Haloperidol
Haloperidol is a typical antipsychotic. It is in the butyrophenone class of antipsychotic medications and has pharmacological effects similar to the phenothiazines....
or lithium carbonate
Lithium carbonate
Lithium carbonate is a chemical compound of lithium, carbon, and oxygen with the formula Li2CO3. This colorless salt is widely used in the processing of metal oxides and has received attention for its use in psychiatry. It is found in nature as the rare mineral zabuyelite.-Properties:Like almost...
may help with psychotic symptoms.
The prognosis for any individual with Fahr’s Syndrome is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. Since the appearance of calcification is age-dependent, a CT scan could be negative in a gene carrier who is younger than the age of 55.
Progressive neurological deterioration generally results in disability and death.
Source
This article is based on a Q&A website prepared by NINDS http://www.ninds.nih.gov/disorders/fahrs/fahrs.htm, part of the National Institutes of HealthNational Institutes of Health
The National Institutes of Health are an agency of the United States Department of Health and Human Services and are the primary agency of the United States government responsible for biomedical and health-related research. Its science and engineering counterpart is the National Science Foundation...
located in Bethesda
Bethesda, Maryland
Bethesda is a census designated place in southern Montgomery County, Maryland, United States, just northwest of Washington, D.C. It takes its name from a local church, the Bethesda Meeting House , which in turn took its name from Jerusalem's Pool of Bethesda...
, Maryland
Maryland
Maryland is a U.S. state located in the Mid Atlantic region of the United States, bordering Virginia, West Virginia, and the District of Columbia to its south and west; Pennsylvania to its north; and Delaware to its east...
.