This raises an important question: Can dementia skip a generation?

The answer depends on the type of genetic condition and its inheritance pattern.

Understanding Autosomal Dominant Inheritance

Autosomal dominant inheritance means…Read more

Inherited forms of dementia caused by single-gene pathogenic variants often develop earlier than common age-related forms. However, there is no single age at which all genetic dementias…Read more

The actual risk depends on several factors, including the mother’s age at diagnosis, the number of affected relatives and whether a disease-causing…Read more

Dementia is an umbrella term describing a group of symptoms associated with progressive impairment of cognitive functions. Alzheimer’s disease, vascular dementia, dementia with Lewy bodies and frontotemporal dementia (FTD) are some of the major types.

From a genetic…Read more

It appears as a distinct reddish or cherry-coloured area near the centre of the retina, surrounded by a relatively pale or whitish background.

In GM1 gangliosidosis, this finding occurs…Read more

It appears as a distinct reddish or cherry-coloured area near the centre of the retina, surrounded by a relatively pale or whitish background.

In GM1 gangliosidosis, this finding occurs…Read more

1. Clinical evaluation

A paediatrician or clinical geneticist evaluates the…Read more

GM1 gangliosidosis is a progressive disorder, meaning that…Read more

The GLB1 gene provides instructions for producing…Read more

One of the earliest signs is hypotonia, commonly described as floppiness…Read more

To understand this, it is important to distinguish between inherited genetic changes and post-zygotic genetic changes.

Inherited genetic variants are usually…Read more

This happens because mosaicism does not necessarily affect every tissue equally.

Remember that the body develops from a fertilised egg through repeated cell…Read more

When a genetic laboratory reports mosaicism, it usually provides the percentage of cells carrying a particular genetic alteration in the tissue that was tested.

For example, consider two individuals with mosaic Down syndrome:
-…Read more

To understand the difference, we first need to understand how Down syndrome occurs.

Down syndrome is a chromosomal condition caused by the presence of additional genetic material from chromosome 21.

There are different types…Read more

To understand this, imagine that the human body develops from a single fertilised egg, called a zygote. Normally, as this cell divides repeatedly, it produces daughter…Read more

The DNA sequence inherited from your parents is generally stable throughout your life. These inherited variants are called germline variants and are present in the reproductive cells and generally throughout the body’s cells.
However, as…Read more

1. Progressive accumulation of cellular damage

Some genetic conditions cause gradual damage to cells, tissues or organs. The effects may initially be too small to produce noticeable symptoms. As damage accumulates, the individual may…Read more

Here are some important examples:

1. Huntington’s disease

Huntington’s disease is an autosomal dominant neurodegenerative disorder caused by a CAG repeat…Read more

Genetic conditions are disorders caused by changes in DNA. These changes may be inherited from parents or arise spontaneously during the formation of reproductive cells or early embryonic development.

Genetic conditions can result from:
– Single-gene mutations.
-…Read more

When a person inherits a disease-associated genetic variant from either parent, that genetic change is generally present from conception. However, the presence of a genetic variant does not necessarily mean that the individual will immediately develop symptoms.

The age at which a genetic…Read more

The CYP2C9 and VKORC1 genes are the…Read more

The CYP2C9 and VKORC1 genes are the…Read more