PolyQ Database
A website with information regarding the 9 polyglutamine diseases documented so far.
Huntington's Disease
Huntington's Disease is the most widely studied and the most well known polyglutamine disease. When it comes to neurodegenerative diseases, HD is the most common inherited across generations and is mainly characterized by excessive and uncontrolled motor movements.
Dentatorubral pallidoluysian atrophy
Dentatorubral pallidoluysian atrophy or DRPLA is sometimes included in the group of autossomal dominant cerebellar ataxias type 1 because of its various clinical combinations that are seen also in ADCA I diseases. DRPLA is a disease believed to be mainly found in Japan.
Spinal-bulbar muscular atrophy
Spinal-bulbal muscular atrophy, also known as Kennedy disease, is a genetic disorder where there is loss of motor neurons. SBMA is inherited in an X-linked manner so carrier females have a 50% chance of transmitting the mutation to each child.
ADCA I
Autosomal dominant cerebellar ataxias type 1 (ADCA I) is a group of diseases that consists of cerebellar ataxia along with variable pyramidal, extrapyramidal, and neuropathic signs. Four polyglutamine diseases are included in this group: SCA1, SCA2, SCA3 and SCA17.
ADCA II
Autosomal dominant cerebellar ataxias type 2 is another ADCA group that consists of diseases presented with cerebellar ataxia and retinal degeneration. SCA7 is included in this group.
ADCA III
Autosomal dominant cerebellar ataxias type 3 is a group of diseases that manifest pure cerebellar ataxia. Many spinocerebellar ataxias make this group, but the one and only polyglutamine disease in this group is SCA6.
Website briefing
- There are 9 polyglutamine diseases: Huntington's, SBMA, DRPLA, SCA1, SCA2, SCA3, SCA6, SCA7 and SCA17.
- From brief disease introductions to molecular and biological mechanisms. Here we present various information about every polyglutmine disease to a certain extent.
- Each disease will have an introduction, first described cases description, epidemiology data with representative maps, various information on the gene that causes disease and the codified protein (normal and mutated), pathophysiology section which presents important cellular pathogenic mechanisms, a clinical segment that includes neuropathology findings, signs and symptoms found in disease patients and a final section regarding any available active trials with experimental drugs and more.
