Immuno-Diagnostics Antibodies and Antigens for Huntington's Disease (HD)

A CAG repeats expansion mutation of the HTT gene leading to the abnormal accumulation of the mutant huntingtin protein (mHTT) is a hereditary rare neurodegenerative disorder ^[1-2].

Pathological Changes

1. Neuronal Loss: HD is characterized by the death of neurons mostly in the striatum region and the cerebral cortex. This decline destroys the functions of motor, cognition and emotional areas of the brain and therefore presents the characteristic features of the disease.

2. Accumulation of Mutant Huntingtin Protein: The mutation in huntingtin (HTT) yields an mutated protein containing an expanded polyglutamine (CAG) triplicate. This mutant huntingtin protein (mHTT) is cytotoxic and is considered the main driving force of the progression of the disease.

3. Formation of Neuronal Inclusions: mHTT accumulates within neurons and may form intracellular inclusions. These inclusions interfere with cellular processes such as protein clearance, energy metabolism, and gene expression, further contributing to neuronal dysfunction and death.

4. Impairment of Neural Transmission: HD impairs neurotransmitter systems most especially the ratio of glutamate and gamma-aminobutyric acid (GABA). This impairment helps in causing motor manifestation like chorea and cognitive dysfunction.

5. Brain Atrophy: As a result of HD, global neuronal loss occurs and is most evident in the striatum and cortex regions. Structural changes are the basis for the disease advancements making it a progressive disease.

Diagnosis

1. Neurological Examination

2. Genetic Testing

3. Neuropsychological Assessment

4. Imaging Studies

5. Biomarker Testing