Disorders of Development and Degenerative Disorders

Flashcards of key vocabulary terms and definitions from the Disorders of Development and Degenerative Disorders lecture notes.

Toxic Chemicals and Mental Disability

Mental disability caused by toxins impairing fetal development during pregnancy.

Fetal Alcohol Syndrome

Birth defect caused by alcohol ingestion during pregnancy, leading to facial anomalies and faulty brain development.

Inherited Metabolic Disorders

Inherited conditions leading to brain damage or impaired brain development due to errors in metabolic processes.

Phenylketonuria (PKU)

Hereditary disorder caused by the absence of an enzyme that converts phenylalanine to tyrosine, leading to brain damage if untreated.

Tay-Sachs Disease

Inherited, fatal, metabolic storage disorder causing brain swelling and damage, prominent in children of Eastern European Jewish descent.

Down Syndrome

Congenital disorder caused by an extra twenty-first chromosome, resulting in intellectual disability and physical abnormalities.

Transmissible Spongiform Encephalopathy

Contagious brain disease with a degenerative process giving the brain a spongelike appearance, caused by misfolded prion proteins.

Creutzfeldt-Jakob Disease

Genetic disorder transmitted as a dominant trait, resulting from a mutation of the PRNP gene on chromosome 20, often occurring sporadically.

Parkinson's Disease

Disease caused by degeneration of the nigrostriatal system, leading to muscular rigidity, slowness of movement, tremor, and postural instability.

α-synuclein

Protein that, when mutated, can lead to the formation of aggregates in dopaminergic neurons, contributing to Parkinson's disease.

Ubiquitination

Process where defective proteins are tagged with ubiquitin and moved to proteasomes for destruction.

Proteasome

Organelle responsible for destroying defective or degraded proteins within a cell.

Ubiquitin

Protein that attaches to faulty proteins, targeting them for destruction by proteasomes.

Globus Pallidus (Gpi) Destruction

Therapeutic procedure for Parkinson's involving the destruction of the internal division of the globus pallidus (Gpi).

GAD (Glutamic Acid Decarboxylase)

Enzyme responsible for the biosynthesis of the major inhibitory neurotransmitter, GABA, used in gene therapy for Parkinson's disease.