Pontocerebellar hypoplasia

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...

Vasogenic edema is a major form of cerebral edema characterized by abnormal accumulation of fluid in the brain’s extracellular space due to disruption of the blood–brain barrier (BBB). The BBB is a specialized structure composed of endothelial cells connected by tight junctions, supported by astrocytic endfeet and a basement membrane. Under normal conditions, it tightly regulates the movement of ions, proteins, and solutes between the bloodstream and brain parenchyma. When this...

The cerebellum, also known as the "little brain," is located in the posterior cranial fossa, inferior to the tentorium cerebelli and dorsal to the brainstem. It plays a significant role in motor control, coordination, and proprioception.
Cerebellar Structure
Externally, the cerebellum features a highly convoluted surface with numerous folia (narrow ridges) separated by shallow sulci (grooves). The cerebellum is divided into two hemispheres by a thin median structure known as the vermis. The...

The brainstem, located inferior to the brain and superior to the spinal cord, serves as a bridge between the cerebrum and the spinal cord. It plays a vital role in relaying information and controlling critical life functions. It comprises three primary regions: the midbrain, pons, and medulla oblongata.
The Midbrain
The midbrain is located beneath the diencephalon and connects the cerebrum with the lower parts of the brain. The cerebral peduncles are prominent midbrain structures that house the...

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...