Leigh Syndrome

What is Leigh Syndrome?

Leigh syndrome is a rare genetic neurometabolic disorder that is characterized by the degeneration of the central nervous system. What is the Pathology of Leigh syndrome? Etiology: The cause of Leigh syndrome is mutation in mitochondrial DNA or by deficiencies…
Mitochondrial Encephalomyopathies

What are Mitochondrial Encephalomyopathies?

Mitochondrial encephalomyopathies represent a clinically heterogeneous group of disorders resulting from abnormal mitochondrial function. Organs with high mitochondrial loads (like the brain and muscles) are particularly susceptible to mitochondrial dysfunction. Examples of mitochondrial encephalomyopathies include: Leigh syndromeMitochondrial encephalomyopathy lactic acidosis…
Tay-Sachs Disease

What is Tay-Sachs Disease?

Tay-Sachs disease is a rare, neurodegenerative disorder in which deficiency of the enzyme hexosaminidase A which results in excessive accumulation of gangliosides in the brain and nerve cells. What is the Pathology of Tay-Sachs Disease? Etiology: The cause of Tay-Sachs…
Niemann-Pick Disease

What is Niemann-Pick Disease?

Niemann-Pick disease is a group of severe inherited metabolic disorders, in which sphingomyelin accumulates in lysosomes in cells.  What is the Pathology of Niemann-Pick Disease? The pathology of Niemann-Pick disease is:  Etiology: The cause of Niemann-Pick disease is genetic. It…
Neuronal Storage Diseases

What are Neuronal Storage Diseases?

Neuronal storage diseases are storage diseases in the central nervous system that result from a deficiency of a specific degradative lysosomal enzyme causing the accumulation of a substrate that is stored in the cytoplasm of the neuronal cell body, and…
Metachromatic Leukodystrophy

What is Metachromatic Leukodystrophy?

Metachromatic leukodystrophy is an inherited lysosomal storage diseases.  Metachromatic leukodystrophy involves a progressive deterioration of motor and neurocognitive function. What is the Pathology of Metachromatic Leukodystrophy? Etiology: The cause of metachromatic leukodystrophy is deficient activity of arylsulfatase A, along with…
Krabbe Disease

What is Krabbe Disease?

Krabbe disease is an inherited disorder that destroys myelin in the brain and throughout the nervous system. Krabbe disease is due to deficiency of the enzyme galactocerebrosidase which is needed for the breakdown of the sphingolipids. What is the Pathology…
Adrenoleukodystrophy

What is Adrenoleukodystrophy?

Adrenoleukodystrophy is a type of genetic condition that damages the myelin sheath. Forms of X-linked adrenoleukodystrophy include: Childhood-onset adrenoleukodystrophy  Addison’s diseaseAdrenomyeloneuropathy What is the Pathology of Adrenoleukodystrophy? Etiology: The cause of adrenoleukodystrophy genetic. It is an X-linked recessive condition caused by…
Leukodystrophies

What are Leukodystrophies?

Leukodystrophies are diseases affect myelin in the brain and spine. Examples of leukodystrophies include: Adrenoleukodystrophy Krabbe diseaseMetachromatic leukodystrophy
Metabolic Diseases of the Central Nervous System

What are Metabolic Diseases of the Central Nervous System?

Metabolic diseases of the central nervous system are genetically associated abnormalities of enzymes. The metabolic consequences of defective enzymes affect the development or functioning of the nervous system. Although most metabolic diseases of the central nervous system occur in children,…