“Genetic Testing May Influence Treatment of Neurologic Disorders”

Excerpts from this recent article in Brain & Life (brainandlife.org) magazine:

“Identifying genetic mutations associated with neurologic disorders may influence treatment and management—and inform decisions about getting tested. … Researchers are still working to understand exactly how these variants interact with each other and with the environment to cause disease. Many of the more common neurologic conditions such as multiple sclerosis, Parkinson’s disease, and Alzheimer’s disease are associated with less severe variants in multiple risk genes, but in some cases they are produced by variants in single causative genes. … If people have puzzling neurologic signs or symptoms, or if one or more neurologic conditions seem to run in their families, should they pursue genetic testing?  The answer depends on the disorder and the usefulness of the information to people and their doctors, according to experts.”

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“Their Dementia Diagnosis Doesn’t Mean They’re Keeping Silent” (WSJ)

This terrific article from the Wall Street Journal in the fall of 2021 notes: 

“As the number of people with dementia grows, more of them are speaking out to challenge assumptions about what they can and can’t do.  A group of advocates, many in the earlier stages of this condition, say that people around them often struggle with understanding the full range of symptoms. …  Life expectancy for those with early-onset dementia varies. One 2019 study showed a mean survival time of 17 years after symptoms start and 10 years after a diagnosis.” 

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Scientists identify the cause of Alzheimer’s progression in the brain – University of Cambridge

The spread of Alzheimer’s Disease has often been described using terms like “chain reaction.”  But a new international study, led by the University of Cambridge (London), has discovered evidence of a different process.  According to a press release about the study:

[Researchers] found that instead of starting from a single point in the brain and initiating a chain reaction which leads to the death of brain cells, Alzheimer’s disease reaches different regions of the brain early. How quickly the disease kills cells in these regions, through the production of toxic protein clusters, limits how quickly the disease progresses overall.  The researchers used post-mortem brain samples from Alzheimer’s patients, as well as PET scans from living patients, who ranged from those with mild cognitive impairment to those with late-stage Alzheimer’s disease, to track the aggregation of tau, one of two key proteins implicated in the condition.

And this research may have implications for other disorders of the protein tau.  The press release says:

The researchers are now planning to look at the earlier processes in the development of the disease, and extend the studies to other diseases such as Frontal temporal dementia, traumatic brain injury and progressive supranuclear palsy where tau aggregates are also formed during disease.

These findings may affect exploration of future treatments of AD, FTD, TBI, and PSP.

Read more of the press release about the research here.

Obviously this study highlights the importance of brain donation, which Brain Support Network (www.brainsupportnetwork.org) can help arrange.

“What is the difference between Lewy body dementia and Alzheimer’s disease?”

“Medical News Today” (medicalnewstoday.com) recently updated its comparison of Lewy body dementia (LBD) and Alzheimer’s disease (AD).  It’s rather basic but might be helpful to newcomers to the LBD community.  See:

www.medicalnewstoday.com/articles/lewy-body-dementia-vs-alzheimers

Especially note this table comparing symptoms:

 

Lewy body dementia Alzheimer’s disease
Symptoms Symptoms include:
• changes in thinking and reasoning
• confusion and alertness that varies from one day to the next
• visual hallucinations
• delusions
• sleep disturbances
• memory loss that is less prominent than in Alzheimer’s but still significant
• slowness and changes in movement
• difficulty interpreting visual information
Symptoms may worsen over time. Mild symptoms include:
• memory loss
• repeating questions
• wandering and getting lost
• losing and misplacing items
• changes in personality and mood
• anxiety
• aggression
• judgment difficulties
• taking more time to complete everyday tasks
Age of onset Occurs between 50–85 years. Occurs during the mid-60s, although it can be earlier.
Causes Researchers have not identified a cause. Causes include a combination of lifestyle, environmental, and genetic factors.
Risk factors Risk factors include:
• older age
• Parkinson’s disease
• REM sleep disorder
Risk factors include:
• older age
• genetics
• cardiovascular conditions
• head injury
Treatment Medication, lifestyle changes, cognitive and behavioral therapy can treat symptoms and slow disease progression. Medication, lifestyle changes, cognitive and behavioral therapy can treat symptoms and slow disease progression.
Life expectancy Most people live for an average of 5–8 years but could be up to 20 years. Most people live for an average of 4–8 years but could be up to 20 years.
Outlook There is no cure, but treatment can help manage symptoms. The symptoms may vary from day to day. There is no cure, while symptoms worsen over time. Medications can help manage symptoms and slow disease progression.

 

The “Treatment” and “Diagnosis” sections are a little weak IMHO.

Robin