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1.

Hereditary diffuse leukoencephalopathy with spheroids

MedGen UID:
777989
Concept ID:
C3711381
Disease or Syndrome
2.

Leukoencephalopathy

This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. [from HPO]

MedGen UID:
505209
Concept ID:
CN002135
Finding
3.

Diffuse leukoencephalopathy

MedGen UID:
358229
Concept ID:
C1868514
Finding
4.

Hereditary diffuse leukoencephalopathy with spheroids

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), which includes both hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), is characterized by executive dysfunction, memory decline, personality changes, motor impairments, and seizures. A frontal lobe syndrome (e.g., loss of judgment, lack of social inhibitors, lack of insight, and motor persistence) usually appears early in the disease course. The mean age of onset is usually in the fourth decade. Affected individuals eventually become bedridden with spasticity and rigidity. The disease course ranges from two to 30 or more years (mean: 8 years). [from GeneReviews]

MedGen UID:
341741
Concept ID:
C1857300
Disease or Syndrome
5.

Leukoencephalopathy

Any of various diseases affecting the white matter of the central nervous system. [from MeSH]

MedGen UID:
78722
Concept ID:
C0270612
Disease or Syndrome
6.

Diffuse

A spatial pattern that is spread out, i.e., not localized. [from HPO]

MedGen UID:
61387
Concept ID:
C0205219
Qualitative Concept
7.

Dementia

Dementia is the name for a group of symptoms caused by disorders that affect the brain. It is not a specific disease. People with dementia may not be able to think well enough to do normal activities, such as getting dressed or eating. They may lose their ability to solve problems or control their emotions. Their personalities may change. They may become agitated or see things that are not there. . Memory loss is a common symptom of dementia. However, memory loss by itself does not mean you have dementia. People with dementia have serious problems with two or more brain functions, such as memory and language. Although dementia is common in very elderly people, it is not part of normal aging. Many different diseases can cause dementia, including Alzheimer's disease and stroke. Drugs are available to treat some of these diseases. While these drugs cannot cure dementia or repair brain damage, they may improve symptoms or slow down the disease. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
99229
Concept ID:
C0497327
Finding; Mental or Behavioral Dysfunction
8.

Tyrosine

Amino acid with side chain -CH2-C6H4OH. [from NCI]

MedGen UID:
21746
Concept ID:
C0041485
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
9.

Seizures

Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. . Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
10.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
11.

Mental Depression

Depression is a serious medical illness that involves the brain. It's more than just a feeling of being "down in the dumps" or "blue" for a few days. If you are one of the more than 20 million people in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. Symptoms can include . -Sadness. -Loss of interest or pleasure in activities you used to enjoy. -Change in weight. -Difficulty sleeping or oversleeping. -Energy loss. -Feelings of worthlessness. -Thoughts of death or suicide. Depression is a disorder of the brain. There are a variety of causes, including genetic, environmental, psychological, and biochemical factors. Depression usually starts between the ages of 15 and 30, and is much more common in women. Women can also get postpartum depression after the birth of a baby. Some people get seasonal affective disorder in the winter. Depression is one part of bipolar disorder. There are effective treatments for depression, including antidepressants and talk therapy. Most people do best by using both. . NIH: National Institute of Mental Health.  [from MedlinePlus]

MedGen UID:
8325
Concept ID:
C0011570
Mental or Behavioral Dysfunction
12.

Corticobasal syndrome

Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. [from ORDO]

MedGen UID:
891765
Concept ID:
CN237765
Disease or Syndrome
13.

Depression

MedGen UID:
881016
Concept ID:
CN236657
Disease or Syndrome
14.

Seizures

MedGen UID:
851405
Concept ID:
CN232558
Disease or Syndrome
15.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
16.

Behavioral abnormality

Conduct that is unusual for the individual. [from NCI_NICHD]

MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
17.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
18.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
19.

Proliferation

Growth and reproduction of new similar forms, e.g. cells, buds, or offspring. [from NCI]

MedGen UID:
137720
Concept ID:
C0334094
Functional Concept; Pathologic Function
20.

Functional disorder

Deranged function in an individual or an organ that is due to a disease. (MedicineNet.com) [from NCI]

MedGen UID:
124450
Concept ID:
C0277785
Pathologic Function; Qualitative Concept
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