SCIENTIFIC BACKGROUND

ATP7A, BICD2, BSCL2, CHCHD10, DNAJB2, FBXO38, GARS, HSPB8, REEP1, SLC5A7, TFG, TRPV4, VAPB

Category:

Scientific Background

Genetic spinal muscular atrophies (SMA) are caused by the loss of anterior horn cells in the spinal cord. The most common form of SMA is caused by deletions (rarely point mutations) of the SMN1 gene (e.g., SMA type 1 Werdnig-Hoffmann disease). In most cases of SMA, a search for deletions is performed, in individual cases a variant analysis is also performed.

 

Other rare forms, called "non-5q-SMA", have been identified by next generation sequencing. Clinically, this is a very heterogeneous group of disorders, some of which have other main symptoms (e.g., pontocerebellar hypoplasia). Essentially, they are characterized by loss of motor neurons in the spinal cord and lower brainstem and muscle weakness and atrophy. Differentiation is based on the age of manifestation, pattern of muscle involvement, anatomical location of the focus of manifestation, and inheritance pattern. Rough classification concerns a division into proximal and distal SMA (DSMA, corresponds to hereditary motor neuropathy).

 

References

Karakaya et al. 2018, Hum Mut 39:1284 / Teoh et al. 2017, Neural Plast 2017:6509493 / Rudnik-Schöneborn et Zerres 2017, medgen 29:21 / Peeters et al. 2014, Brain 137:2879

GENES

ATP7A, BICD2, BSCL2, CHCHD10, DNAJB2, FBXO38, GARS, HSPB8, REEP1, SLC5A7, TFG, TRPV4, VAPB
How to order

LATEST ARTICLES

We're thrilled to share the results of Medicover Genetics essay competition for high school students as well as the two winning essays. This competit...

Read more

Cystic fibrosis (CF) is a life-threatening, progressive, inherited condition that causes severe damage to the body, primarily affecting the organs of...

Read more

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. It affects physical growth, facial features, and cogni...

Read more

Every year on April 25th, DNA Day celebrates the discovery of DNA’s double helix and the advances we’ve made in understanding genetics. D...

Read more

Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients f...

Read more

Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced ...

Read more

Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inherited diso...

Read more

Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of two. The co...

Read more

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study...

Read more

Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a...

Read more