A discussion on the top five diseases of the brain

The study involved restricting mice from using their hind legs, but not their front legs, over a period of 28 days. The mice continued to eat and groom normally and did not exhibit stress.

A discussion on the top five diseases of the brain

The clinical presentations generally attributed to these brain calcifications are highly variable, ranging from asymptomatic patients, to severely affected patients with progressive neuropsychiatric features. To date, pathogenic mutations in five genes have been associated with PFBC: Introduction Primary familial brain calcification PFBC has recently become the preferred name for this condition because mutations in specific genes are now known to cause the disease.

Previously, familial idiopathic basal ganglia calcification was the preferred name, and Fahr's disease is often used for either familial or sporadic brain calcification. It is unknown if these are the same or different diseases. These calcium deposits are commonly found in the fourth to fifth decade of life, while neuropsychiatric symptoms when present usually begin in the third to fifth decade of life.

Additionally, some individuals with PFBC may be clinically asymptomatic for several decades. Early symptoms may include clumsiness, fatigue, slow or slurred speech and difficulty swallowing dysphagia. Features of Parkinson disease found in this disorder may include tremors and rigidity Parkinsonisma masklike facial expression, shuffling walk, and a pill rolling motion of the fingers.

Muscle cramping dystoniauncontrollable spasmodic irregular movements choreaand seizures can also occur.

Associated Data

Occasional symptoms include sensory changes, headaches and urinary incontinence. Associated symptoms include loss of contact with reality psychosismood swings and loss of acquired motor skills.

As the condition progresses, paralysis may develop that is associated with increased muscle stiffness rigidity and restricted movements spastic paralysis.

Additional abnormalities may include relatively slow, involuntary, continual writhing movements athetosis or chorea, a related condition characterized by irregular, rapid, jerky movements. A recent study indicated that Parkinsonism was the most frequent symptom in a group of 44 PFBC patients, followed by cognitive impairment, psychiatric symptoms and cerebellar signs Ramos et al.

Causes PFBC is caused by mutations in several different genes, and it can either be inherited or develop spontaneously. In inherited cases, the vast majority follow autosomal dominant inheritance, but autosomal recessive inheritance and new gene mutations in an affected person have also been reported.

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Autosomal dominant genetic disorders occur when a single copy of an abnormal gene is necessary to cause a disease. Four different genes have been described to cause PFBC in an autosomal dominant fashion: In the following years, more than 50 mutations in this gene have been identified, and mutations in this gene are the most common cause of PFBC Lemos et al.

Since then, three other genes have been linked to autosomal dominant forms of PFBC: Autosomal recessive genetic disorders occur when two copies of an abnormal gene are necessary to cause a disease. The abnormal gene then has to be inherited from both parents in order to cause the disease in the offspring.

Lastly, in some individuals the disorder is due to spontaneous de novo genetic mutations that may occur in the egg or sperm cell. It is not known how many people have PFBC as a result of new gene mutations.

Affected Populations The prevalence of PFBC is unknown, but more people are being diagnosed probably due to the growing availability of neuroimaging screening and genetic testing.

A recent study indicates that the prevalence of PFBC may be higher than what was initially thought. Through a population-based genomic analysis, the authors estimated that the prevalence of the condition ranges from 4.

Related Disorders Calcification of the basal nuclei in the brain is found in many medical conditions and can be caused by infections as well as metabolic and other genetic syndromes. It is also not uncommon to observe calcium deposits of the basal ganglia in individuals over 60 years of age and this finding is not usually associated with diseases.

Symptoms of the following disorders may be similar to those of PFBC. Comparisons may be useful for a differential diagnosis: Parkinson disease is a slowly progressive neurologic condition characterized by involuntary trembling tremormuscular stiffness or inflexibility rigidityslowness of movement and difficulty carrying out voluntary movements.

Degenerative changes occur in areas deep within the brain substantia nigra and other pigmented regions of the braincausing a decrease in dopamine levels in the brain.

A discussion on the top five diseases of the brain

Dopamine is a neurotransmitter, which is a chemical that sends a signal in the brain. Hypoparathyroidism is a condition characterized by insufficient production of parathyroid hormones by the parathyroid glands, the small, oval glands located near the thyroid gland in the neck.

Parathyroid hormones along with vitamin D and the hormone calcitonin, which is produced by the thyroid gland play a role in regulating levels of calcium in the blood. Due to deficiency of parathyroid hormones, affected individuals exhibit abnormally low levels of calcium in the blood hypocalcemia.

Hypoparathyroidism may result from absence of the parathyroid glands, removal or damage to the parathyroid glands or from several different underlying disorders. In rare cases, hypoparathyroidism may be inherited in an autosomal recessive pattern.

Pseudohypoparathyroidism is a hereditary disorder characterized by an inadequate response to the parathyroid hormone, although the hormone is present in normal amounts. In addition, individuals with pseudohypoparathyroidism may have an abnormally round face, thick short stature, unusually short fourth fingers, and intellectual disability.Infectious diseases are transmitted in several ways.

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Some of these infections may affect the brain or spinal cord directly. Generally, an infection is a disease that is caused by the invasion of a microorganism or virus.. Degeneration. Degenerative spinal disorders involve a loss of function in the spine. General Discussion.

Summary. Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by the presence of abnormal calcium/hydroxyapatite deposits (calcifications) in . Brain Diseases: Tumors, Masses, and Increased Pressure This category of brain disease includes: Brain tumor: Any abnormal tissue growth inside the brain; whether malignant (cancerous) or benign, brain tumors usually cause problems by the pressure they exert on the normal brain.

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Perlmutter, much of our current disease burden, including brain diseases, stems from the fact that we are contaminating our immune systems with proteins to which the human immune system has never, in the history of. Brain damage is an injury that causes the destruction or deterioration of brain cells..

In the U.S., every year, about million people have some type of brain injury -- whether as a result of. Eventually, children with Batten disease become blind, bedridden, demented and die.

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Batten disease is a terminal disease and life expectancy varies depending on the type or variation. Bobble-head Doll Syndrome Bobble-head doll syndrome is just like it sounds.

Primary Familial Brain Calcification - NORD (National Organization for Rare Disorders)