| D007966 |
Leukodystrophy, Metachromatic |
An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms. |
Arylsulfatase A Deficiency Disease,Cerebroside Sulphatase Deficiency Disease,ARSA Deficiency,Arylsulfatase A Deficiency,Cerebral sclerosis, Diffuse, Metachromatic Form,Cerebroside Sulfatase Deficiency,Greenfield Disease,Greenfield's Disease,Leukodystrophy, Metachromatic, Adult,Leukodystrophy, Metachromatic, Juvenile,Metachromatic Leukodystrophy,Metachromatic Leukodystrophy, Adult,Metachromatic Leukodystrophy, Adult-Type,Metachromatic Leukodystrophy, Infant,Metachromatic Leukodystrophy, Infant-Type,Metachromatic Leukodystrophy, Juvenile,Metachromatic Leukodystrophy, Juvenile-Type,Metachromatic Leukodystrophy, Late Infantile,Metachromatic Leukoencephalopathy,Sulfatide Lipidosis,ARSA Deficiencies,Adult Metachromatic Leukodystrophies,Adult Metachromatic Leukodystrophy,Adult-Type Metachromatic Leukodystrophies,Adult-Type Metachromatic Leukodystrophy,Arylsulfatase A Deficiencies,Cerebroside Sulfatase Deficiencies,Deficiencies, ARSA,Deficiencies, Arylsulfatase A,Deficiencies, Cerebroside Sulfatase,Deficiency, ARSA,Deficiency, Arylsulfatase A,Deficiency, Cerebroside Sulfatase,Infant Metachromatic Leukodystrophies,Infant Metachromatic Leukodystrophy,Infant-Type Metachromatic Leukodystrophies,Infant-Type Metachromatic Leukodystrophy,Juvenile Metachromatic Leukodystrophies,Juvenile Metachromatic Leukodystrophy,Juvenile-Type Metachromatic Leukodystrophies,Juvenile-Type Metachromatic Leukodystrophy,Leukodystrophies, Adult Metachromatic,Leukodystrophies, Adult-Type Metachromatic,Leukodystrophies, Juvenile Metachromatic,Leukodystrophies, Juvenile-Type Metachromatic,Leukodystrophies, Metachromatic,Leukodystrophy, Adult Metachromatic,Leukodystrophy, Adult-Type Metachromatic,Leukodystrophy, Juvenile Metachromatic,Leukodystrophy, Juvenile-Type Metachromatic,Leukoencephalopathies, Metachromatic,Leukoencephalopathy, Metachromatic,Lipidosis, Sulfatide,Metachromatic Leukodystrophies,Metachromatic Leukodystrophies, Adult,Metachromatic Leukodystrophies, Adult-Type,Metachromatic Leukodystrophies, Infant,Metachromatic Leukodystrophies, Infant-Type,Metachromatic Leukodystrophies, Juvenile,Metachromatic Leukodystrophies, Juvenile-Type,Metachromatic Leukodystrophy, Adult Type,Metachromatic Leukodystrophy, Infant Type,Metachromatic Leukodystrophy, Juvenile Type,Metachromatic Leukoencephalopathies,Sulfatase Deficiencies, Cerebroside,Sulfatase Deficiency, Cerebroside |
|
| D009103 |
Multiple Sclerosis |
An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903) |
MS (Multiple Sclerosis),Multiple Sclerosis, Acute Fulminating,Sclerosis, Disseminated,Disseminated Sclerosis,Sclerosis, Multiple |
|
| D009185 |
Myelin Proteins |
MYELIN-specific proteins that play a structural or regulatory role in the genesis and maintenance of the lamellar MYELIN SHEATH structure. |
Myelin Protein,Protein, Myelin,Proteins, Myelin |
|
| D009188 |
Myelitis, Transverse |
Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence. (Adams et al., Principles of Neurology, 6th ed, pp1242-6) |
Demyelinative Myelitis,Transverse Myelitis,Myelitis, Acute Transverse,Myelitis, Necrotizing,Myelitis, Paraneoplastic,Myelitis, Postinfectious,Myelitis, Postvaccinal,Myelitis, Subacute Transverse,Postinfectious Myelitis,Transverse Myelopathy Syndrome,Acute Transverse Myelitis,Myelitides, Subacute Transverse,Myelitis, Demyelinative,Necrotizing Myelitis,Paraneoplastic Myelitis,Postvaccinal Myelitis,Subacute Transverse Myelitis,Transverse Myelitis, Acute,Transverse Myelitis, Subacute,Transverse Myelopathy Syndromes |
|
| D011863 |
Radioimmunoassay |
Classic quantitative assay for detection of antigen-antibody reactions using a radioactively labeled substance (radioligand) either directly or indirectly to measure the binding of the unlabeled substance to a specific antibody or other receptor system. Non-immunogenic substances (e.g., haptens) can be measured if coupled to larger carrier proteins (e.g., bovine gamma-globulin or human serum albumin) capable of inducing antibody formation. |
Radioimmunoassays |
|
| D002556 |
Cerebrospinal Fluid Proteins |
Proteins in the cerebrospinal fluid, normally albumin and globulin present in the ratio of 8 to 1. Increases in protein levels are of diagnostic value in neurological diseases. (Brain and Bannister's Clinical Neurology, 7th ed, p221) |
Proteins, Cerebrospinal Fluid,Fluid Proteins, Cerebrospinal |
|
| D003711 |
Demyelinating Diseases |
Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system. |
Clinically Isolated CNS Demyelinating Syndrome,Clinically Isolated Syndrome, CNS Demyelinating,Demyelinating Disorders,Demyelination,Demyelinating Disease,Demyelinating Disorder,Demyelinations |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|