A rare disorder character where a part of the brain (cerebellum) is underdeveloped and a nonprogressive eye disorder involving the retinal pigments. The cerebellum is the part of the brain that controls balance and movement.
A rare disorder character where a part of the brain (cerebellum) is underdeveloped and abnormally increased bone density (endosteal sclerosis).
Progressive deterioration of the superficial layer of the cerebellum in the brain resulting in various neurological symptoms. The condition may be inherited or be associated with conditions such as cancer and alcoholism.
A rare disorder characterized by mental deficiency and delayed development of speech and motor skills. The condition is nonprogressive and is caused by degeneration of a part of the brain called the cerebellum.
A rare brain disorder which manifests as reduced muscle tone, ataxia, cataracts and mental retardation.
A rare brain disorder which manifests as reduced muscle tone, ataxia, cataracts and mental retardation.
Cerebral amyloid angiopathy (CAA) is a neurological condition in which amyloid protein is deposited onto the walls of the arteries of the brain (and less frequently, veins). Although CAA often does not cause symptoms, it may cause bleeding into the brain (hemorrhagic stroke), dementia, or neurologic episodes in some patients. The majority of CAA cases occur in individuals who do not have a family history.
It is not associated with systemic amyloidosis. CAA has been recognized as one of the morphologic hallmarks of Alzheimer disease (AD), but it is also often found in the brains of elderly patients who are neurologically healthy. While often asymptomatic, CAA may lead to dementia, intracranial hemorrhage (ICH), or transient neurologic events. ICH is the most recognized result of CAA. Most affected individuals die within a decade after signs and symptoms first appear, although some people with the disease have survived longer.
There are many different types of hereditary cerebral amyloid angiopathy. The different types are distinguished by their genetic cause and the signs and symptoms that occur. The various types of hereditary cerebral amyloid angiopathy are named after the regions where they were first diagnosed.
The Dutch type of hereditary cerebral amyloid angiopathy is the most common form. Stroke is frequently the first sign of the Dutch type and is fatal in about one third of people who have this condition. Survivors often develop dementia and have recurrent strokes. About half of individuals with the Dutch type who have one or more strokes will have recurrent seizures (epilepsy).
People with the Flemish and Italian types of hereditary cerebral amyloid angiopathy are prone to recurrent strokes and dementia. Individuals with the Piedmont type may have one or more strokes and typically experience impaired movements, numbness or tingling (paresthesias), confusion, or dementia.
The first sign of the Icelandic type of hereditary cerebral amyloid angiopathy is typically a stroke followed by dementia. Strokes associated with the Icelandic type usually occur earlier than the other types, with individuals typically experiencing their first stroke in their twenties or thirties.
Strokes are rare in people with the Arctic type of hereditary cerebral amyloid angiopathy, in which the first sign is usually memory loss that then progresses to severe dementia. Strokes are also uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus).
Two types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized by dementia and movement problems. Strokes are uncommon in these types. People with the Danish type may also have clouding of the lens of the eyes (cataracts) or deafness.
Cerebral aneurysm is a common cerebrovascular disorder caused by a weakness in the wall of a cerebral artery or vein.
Another name for Cerebral cavernous hemangioma isCerebral cavernous malformations .(CCMs) are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls that are prone to leak. They also lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, when the capillaries fill with blood, they stretch out and may not return to their normal size when the blood vessels empty. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the central nervous system (the brain and spinal cord).
A rare disorder characterized by abnormal brain development, neurological problems, scaly skin and thickened skin on the palms and soles.
A very rare syndrome characterized mainly by abnormal brain development and jaw cysts
Brain damage that involves muscle rigidity that occurs either in both arms or in both legs. The brain damage is often the result of a birth defect or some sort of trauma to the brain.
Spastic tetraplegic cerebral palsy: A rare disorder characterized by the association of spasticity -muscle tightness of the arms and legs, as well as cerebral palsy.
A tumor that occurs in the fluid-filled spaces of the brain called the ventricles. Symptoms vary depending on the size and exact location of the tumor and whether it is cancerous or not.
A very rare syndrome characterized by mental retardation, spinal and rib defects and facial anomalies.
A very rare syndrome characterized by abnormalities of the brain, eyes, teeth, ears and skeleton.
A very rare syndrome characterized mainly by brain, eye and genital abnormalities.
A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities.
A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities
A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
A genetic disorder involving degeneration of the brain and spinal cord that starts during the fetal stage
A cerebrospinal fluid leak (CSFL) is a medical condition where the cerebrospinal fluid in the brain leaks out of the dura mater. This can be due to a spontaneous cerebrospinal fluid leakor result from different causes such as a lumbar puncture or physical trauma. While high CSF pressure can make lying down unbearable, low CSF pressure due to a leak is often relieved somewhat by lying flat on the back.
Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the body. Xanthomatosis refers to the formation of fatty yellow nodules (xanthomas). Cerebrotendinous refers to the typical locations of the xanthomas (cerebro- meaning the brain and -tendinous meaning connective tissue called tendons that attach muscle to bone).
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
Other features of cerebrotendinous xanthomatosis include chronic diarrhea during infancy, clouding of the lens of the eye (cataracts) developing in late childhood, progressively brittle bones that are prone to fracture, and neurological problems in adulthood, such as dementia, seizures, hallucinations, depression, and difficulty with coordinating movements (ataxia) and speech (dysarthria). The neurological symptoms are thought to be caused by an accumulation of fats and an increasing number of xanthomas in the brain. Xanthomas can also accumulate in the fatty substance that insulates and protects nerves (myelin), disrupting nerve signaling in the brain. Disorders that involve the destruction of myelin are known as leukodystrophies. Degeneration (atrophy) of brain tissue caused by excess lipid deposits also contributes to the neurological problems.
Xanthomas in the tendons (most commonly in the Achilles tendon, which connects the heel of the foot to the calf muscles) begin to form in early adulthood. Tendon xanthomas may cause discomfort and interfere with tendon flexibility. People with cerebrotendinous xanthomatosis are also at an increased risk of developing cardiovascular disease. If untreated, the signs and symptoms related to the accumulation of lipids throughout the body worsen over time; however, the course of this condition varies greatly among those who are affected.
Ceroid lipofuscinosis - Neuronal 1 (also known as CLN1, Classic Infantile NCL, INCL and Santavuori-Haltia) is a rare inherited biochemical disorder involving the progressive accumulation of lipopigments (lipofuscins) in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys due to deficiency of an enzyme (protease tri-peptidyl-peptidase) needed to process it. CLN1 is often caused by a mutation in the PPT1 (palmitoyl- protein thioesterase 1) gene or more rarely from mutations in the KCTD7 (Potassium channel tetramerisation domain containing 7 ) gene. The age of onset is usually between 6-24 months.
All individuals with a ceroid lipofuscinosis neuronal disorder have progressive decline, an evolving cognitive and motor disorder, and seizures.
Ceroid lipofuscinosis - Neuronal 10 (also known as CLN10, Congenital neuronal ceroid lipofuscinosis and Cathepsin D deficiency disease) is a rare, severe metabolic disorder that primarily affects the nervous system and is characterized by the deposits of lipopigments (lipofuscin). CLN10 involves a deficiency of cathepsin D and involves an initial period of normal development with neurodegenerative symptoms starting during the early school years.
Individuals with this condition typically show signs and symptoms soon after birth. These signs and symptoms can include muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus). It is likely that some affected individuals also have seizures before birth while in the womb. Infants with CLN10 disease have unusually small heads (microcephaly) with brains that may be less than half the normal size. There is a loss of brain cells in areas that coordinate movement (the cerebellum) and control thinking and emotions (the cerebral cortex). Nerve cells in the brain also lack a fatty substance called myelin, which protects them and promotes efficient transmission of nerve impulses. Infants with CLN10 disease often die hours to weeks after birth.
In some individuals with CLN10 disease, the condition does not appear until later in life, between late infancy and adulthood. These individuals have a gradual loss of brain cells and often develop problems with balance and coordination (ataxia), loss of speech, a progressive loss in intellectual functioning (cognitive decline), and vision loss. Individuals with later-onset CLN10 disease have a shortened lifespan, depending on when their signs and symptoms first started.
Ceroid lipofuscinosis - Neuronal 4 (also known as Kufs disease and CLN4) is one of a group of rare inherited biochemical disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.
There are two types of CLN4 disease: Type A and Type B. Type A causes seizures, myoclonic epilepsy (muscle jerks), dementia, ataxia (compromised muscle coordination), tremors and tics, dysarthria (speech difficulties), confusion, and psychotic behaviour. Although similar to Type A, patients with Type B do not suffer from myoclonic epilepsy or dysarthria, and they do display changes in personality. It is occasional that patients present with skin disorders causing dryness, roughness, and scaliness. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood. In addition, the signs and symptoms of CLN4 disease worsen over time, and affected individuals usually survive about 15 years after the disorder begins.