SCIENTIFIC BACKGROUND

ATXN1, ATXN2, ATXN3, ATXN7, TBP, ATN1

Scientific background

In 90% of patients with a choreatic movement disorder of genetic origin, a pathogenic CAG triplet repeat expansion in the HTT gene can be detected. For the remaining 10% with no evidence of a pathological HTT-CAG triplet repeat expansion, a differential diagnosis of Huntington-like disorders, which are clinically difficult or impossible to differentiate, can be clarified by comprehensive gene panel testing. For some of the listed genes, the presence of a repeat expansion is clarified by PCR and subsequent capillary electrophoresis (fragment length analysis).

 

References

Mencacci et Carecchio 2016, Curr Opin Neurol 29:486 / Hensman Mosset et al. 2014, Neurology 82:292 / Nguyen 2013, MedGen 25:223 / Martino et al. 2013, J Neurol Neurosurg Psychiatry 84:650

GENES

ATXN1, ATXN2, ATXN3, ATXN7, TBP, ATN1

ASSOCIATED TESTS

How to order

LATEST ARTICLES

Overview In January 2024, the American Society of Clinical Oncology (ASCO) and the Society of Surgical Oncology (SSO) published new recommendation...

Read more

Endometriosis is a chronic gynecological condition that affects 1 in 10 women of reproductive age worldwide [1]. It can manifest with the first menst...

Read more

Rare Disease Day is a global awareness day held annually to raise awareness of all rare diseases. It was first celebrated in 2008, on the rarest day ...

Read more

Cancer is a group of genetic diseases that can develop almost anywhere in the body. Many people in the world are affected by cancer every year. Follo...

Read more

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first...

Read more

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten ...

Read more

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the...

Read more

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized the...

Read more

In honor of the international day of women and girls in science, we interviewed one of our very own, Dr. Evelina Papaioannou. Dr. Evelina Pa...

Read more

Aneuploidies, such as translocations, whole or segmental chromosomal duplications, and deletions, are examples of chromosomal abnormalities that are ...

Read more