POST Online Media Lite Edition


Batten disease, a group of fatal genetic disorders

Abraham Eisenstein, M.D. |
Batten disease is an autosomal recessive disease, which means that both parents must have a defective gene in order for their child to get that inherited disease.

Article continues below

There are small bodies in our cells called lysosomes. Their task is to clean the cell: they break down compounds to smaller parts that can be thrown out of the cell or recycled.

In a case of Batten disease, genes don't provides information normal genes do, lysosomes don't work correctly, and that causes cell waste to build up. It is obvious that build up of waste elements in a cell can't be good.

And indeed, it's very bad. Children with Batten disease have very short life expectancy and in some cases patients live to their thirties. Batten disease can develop in adults but then symptoms are usually mild and life expectancy is not shorter than usual.

There are 13 typs of Batten disease, depending on gene that causes the disease. Each gene is called CLN (ceroid lipofuscinosis, neuronal), so Batten disease type are CLN1, CLN2, and so on.

Batten disease, or Neuronal Ceroid Lipofuscinosis (NCL), has 13 known forms. Progressions of the different forms of the disease vary (the phenotype) based on the type of genetic mutation (the genotype) and other factors. Each form is classified by the gene that causes the disorder. Each gene is called CLN (ceroid lipofuscinosis, neuronal) and given a different number designation as its subtype.

Lets' go briefly through them.

CLN1 disease, infantile onset

Symptoms appear before age 1 and the disease progress rapidly. Standing, walking, and talking can't be learned or are lost after being learned. Then there are often seizures by age 2 and blindness. By age 3 children may be dependent on their caregivers and some may need a feeding tube. Most die in early to mid-childhood.

CLN1 disease, juvenile onset

Some children develop the disease around age 5 or 6 and have slower disease progression. They may live into teenage years or they have no symptoms until adolescence and may live into adulthood.

CLN2 disease, late-infantile onset

Developmental delay begins around the end of age 2. After that there are seizures, a gradually loss of walk and speak abilities. Involuntary jerks in muscle s begin around age 4-5. By age 6 most they are completely dependent on their caregivers, and many will require a feeding tube. Most die between the ages of 6–12 years.

CLN2 disease, later-onset

Some children develop the disease around age 6 or 7 and have slower disease progression. Loss of coordination may be the initial symptom. They may live into their teenage years.

CLN3 disease, juvenile onset (ages 4-7)

Rapidly progressive vision loss begins between ages 4 and 7. Then there are learning and behavior problems, dementia, and seizures around age 10. In the teenage years, symptoms are slow movement, stiffness, loss of balance, difficulties with speech and language. Later, children and teenagers become dependent on their caregivers. Most die between the ages of 15 and 30.

CLN4 disease, adult onset

This form typically begins around age 30 and causes problems with movement and early dementia. The age of death varies among affected individuals.

CLN5 disease, variant late-infantile onset

Children progress normally for the first few years before losing skills and behavior problems. Seizures and jerks begin between ages 6 and 13. Vision deteriorates and is eventually lost and there are learning disabilities, problems with concentration and memory, and some may need a feeding tube. Most live into late childhood or teenage years.

CLN6, variant late-infantile onset

Symptoms vary among children, but typically start after the first few years and include developmental delay, changes in behavior, and seizures. They eventually lose skills for walking, playing, and speech, there are jerks, problems with sleep, and vision loss. Most die during late childhood or in their early teenage years.

CLN6, adult onset

This form shows signs in early adulthood that include epilepsy, lack of balance or coordination, and then there is a slow but progressive cognitive decline.

CLN7, variant late-infantile onset

Developmental delays begin after a few years in which a child appears to be normal. Children develop epilepsy between the ages of 3 and 7, and then there are problems sleeping and jerks. Then they begin to lose the ability to walk, play, and speak, with a rapid advancement of symptoms between the ages of 9 and 11. Most live until their late childhood or teenage years.

CLN8 disease with Epilepsy with Progressive Mental Retardation (EPMR)

Symptoms begin between ages 5 and 10 and include seizures, cognitive decline, and behavioral changes. Seizures become significant after adolescence and loss of speech occurs in some patients. They can live into adulthood. A very rare form of CLN8 is called Northern Epilepsy syndrome because it occurs in some families in Finland.

CLN8 disease, late-variant onset

Affected children begin showing symptoms between ages 2 and 7, which include loss of vision, cognitive problems, unsteadiness, myoclonic jerks, and behavioral changes. Patients develop treatment-resistant epilepsy and lose cognitive skills by age 10. Many lose the ability to walk or stand on their own. Some have lived into their second decade of life.

CLN10 disease

This is a very rare disease. It is seen soon after birth, although it can occur later in childhood or adulthood. Some children have microcephaly. Seizures may occur before birth and after birth babies may have seizures that can't be treated, problems with breathing that can lead to respiratory failure, and there is obstructive sleep apnea. Babies may die shortly after birth or within the first weeks of life.

A late-infantile form features a later onset of symptoms and slower disease progression. Children develop seizures and problems with vision, balance, and intellectual skills. They may have problems coordinating muscle movement and trouble with walking. They often die in early childhood.

So, in short: Symptoms may start before the first birthday and they include seizures, vision loss, abnormal movements, and loss of skills they previously learned.

Later, more symptoms arrive: personality change, learning difficulties, anxiety, lack of concentration, difficulty sleeping, and involuntary movements. After that it goes worse: worse seizures, dementia, loss of motor skills and speech.

In the end, children are wheelchair bound, blind, unable to communicate, and lose all cognitive functions.

We don't know how many people have Batten disease but it is believed that 1 in 12,500 people carries two genese that cause it.

Most diagnoses of Batten disease are made by genetic testing, but there are also measurement of enzyme activity, electroencephalograms and computed tomography that can confirm or deny it really is Batten disease.

There is no cure for Batten disease but a treatment for CLN has been approved by the U.S. Food and Drug Administration (FDA).

The University of Rochester Medical Center (URMC) will serve as the lead study site in the U.S. for an experimental treatment for CLN5 Batten disease.

Neurogene’s NGN-101 was cleared by the Food and Drug Administration to begin clinical trials and has received Orphan Drug Designation by the U.S. and European regulatory agencies.

The clinical trial will evaluate a single intraventricular dose delivered directly into cerebrospinal fluid in the brain. The treatment NGN-101 uses a virus to deliver a healthy version of CLN5 gene directly to the central nervous system. Animal studies have shown that the treatment has the potential to halt the key features of disease progression, including vision, motor, cognitive, and behavioral declines.

What to read next

Epileptic seizures and depression may share a common genetic cause
Genomic study brings us closer to precision medicine for type 2 diabetes
Genetic 'seeds' of metastatic breast cancer

U.S.: Strong storm for west and southwest, heavy snow for Northern Plains and upper midwest

A very strong low pressure system currently just offshore of San Francisco Bay will continue to bring high winds, heavy rain, and heavy mountain snow for California and adjacent areas of the Southwest through tonight and Wednesday as the latest in a series of atmospheric rivers impacts the West.


Magnitude 5.9 earthquake strikes Valparaiso
Perrigo recalls Gerber Good instant formula in U.S.
City of Chicago announces Community Growers Program
Xi, Putin discuss ramping up supplies of Russian gas


Extensive raid underway in Slovenia and Bosnia and Herzegovina on suspicion of money laundering

Strong earthquake hits Afghanistan, felt from Kabul to Tajikistan
5-day quarantine for COVID-19 patients in Slovakia no longer mandatory
China seeking answers a year after fatal plane crash
Ecuador president declares state of emergency following earthquake
Venezuela’s oil minister resigns amid corruption probe


Generic pharmaceuticals market expected to reach $682.9 billion

Drug discovery services market worth $41.3 billion
Moldova resumes using Russian gas
Ukraine to ship 30,000 tonnes of wheat to Yemen, Ethiopia each
Syria earthquakes caused $5.2 billion in damage, 5.5% GDP contraction
Donors’ pledge €7 billion in support of people in Türkiye and Syria

Trending Now

Perrigo recalls Gerber Good instant formula in U.S.

U.S.: Strong storm for west and southwest, heavy snow for Northern Plains and upper midwest

Saudi Aramco, DHL sign agreement on new procurement, logistics hub

City of Chicago announces Community Growers Program


California Governor visits Lithium Valley

Czech delegation heads to Taiwan, hopes for chip investments
India to spend $12 billion on airports
New York: March 18-19, 25-26 declared as Maple Weekends
Malaysia postpones foreign worker quota approval, application
Minnesota to provide free school meals to all kids

Today We Recommend

Shortage of nurses should be treated as global health emergency


Generic pharmaceuticals market expected to reach $682.9 billion

Drug discovery services market worth $41.3 billion

Foot Locker Q4 income decreased


Schneider Electric breaks ground on its fifth plant in Hungary, will create hundreds of new jobs

Amazon to lay off 9,000 more employees
Volvo to close Europe bus body plant
CF Industries to purchase Waggaman ammonia production facility in U.S.
Cyber incident in Ferrari
Saudi Aramco, DHL sign agreement on new procurement, logistics hub


Vanda Pharmaceuticals appoints Tage Honoré to board

Akhona Qengqe to become KFC Africa’s new general manager
Marlabs appoints Usha Jamadagni as chief delivery officer
Rolls-Royce announces new leadership for Africa
AIG director William G. Jurgensen to retire
Ball Corporation promotes Daniel W. Fisher to chairman


BiH records almost seven percent increase of exports

Hong Kong exports decreased
South Korea's export falls 17.4 pct for first 20 days of March
Bundesbank: German economy to contract further in Q1
Euro area international trade in goods deficit €30.6 bn
Montana’s unemployment rate hits all-time low


Foot Locker Q4 income decreased

FedEx Q3 profit decreases
Revlon Q4 sales $589.8 million
Eastman Kodak Q4 revenues $305 million
Williams-Sonoma Q4 revenue declined 0.6%
G-III Apparel Q3 sales increased 14.2%


Micromanaging is the worst enemy of efficiency and teamwork

Niger set to monetize massive gas reserves through Saharan natural gas pipeline
Putting the brakes on EV folly that choked the market
Oil discovery in Kavango Basin may mean huge benefits for Namibians
Cape Town and Dubai battle over Africa's energy future
Is America going to lose its superpower status?


Türkiye's agricultural sector suffers 1.3 bln loss due to earthquake

Hong Kong suspends import of poultry meat and products from Gribskov Municipality, Denmark
South Korea reports African swine fever case
Taiwan reports first domestic H9N2 avian influenza case
Industry will allocate some $327,000 to assist producers affected by drought in Uruguay
Hardly fewer dairy cows, but smaller pig herd in Netherlands in 2022


Success of working from home depends on company health

Consumers less likely to support brands with unconventional spellings
HR practices have both positive and negative effects on employee mental health
CEO education is no guarantee of stock market success
How remote work affects managers
Incoming CEO's political views may drive director departure in firm


Poland: UOKIK fines Merida Polska $573,000

SEC charges DXC Technology for misleading non-GAAP disclosures
Investigation leads to takedown of darknet cryptocurrency mixer that processed over $3b of unlawful transactions
Chicago reaches $23.8m settlement agreement with e-cigarette maker Juul Labs
SEC charges Blackbaud for misleading disclosures about ransomware attack that impacted charitable donors
Former Goldman Sachs investment banker sentenced in $2.7b bribery and money laundering scheme



Five day street food festival in Mangaluru brings Indian food to city

Qatar International Food Festival is back
Me Auld Flower food and drink festival coming to Dublin for St Patrick's Day weekend
Ten days of Winter Festival, a time travel back to end of 18th century Norway
Strong Beer Fest in Munich invites visitors to taste potent brews
Food world gathers for Melbourne Food and Wine Festival this March


First GMC Sierra EV, power source on wheels

Ford Puma ST Powershift, most powerful 1.0‑litre EcoBoost engine
Toyota launches new Prius PHEV in Japan
Ariel Atom, serious motor sport or ultimate fun
ABT XNH, camper for those who want to expand their horizons
Lamborghini Invencible and Autentica, farewell to V12


Juliska tableware, collections for every occasion

Wool coats, a timeless fashion investment
Venetto bedding, creating a beautiful bedroom space
Bed headboards, sleep like a king
Great rugs for generations responsibly made
Curved sofas, elegant and gentle


New Cherry microphones for professional sound quality

Mobile Fidelity UltraDeck turntable, extreme pursuit of highest level of reproduction
Nokia G22, good smartphone you can fix yourself
NAD C 3050 LE amplifier, a classic reinvented
Asus Zenbook S 13 OLED, ultralighta and powerful laptop with OLED display
Dynaudio Confidence means pure performance


Shortage of nurses should be treated as global health emergency

WHO accuses China Of withholding data on COVID-19 origins after report about raccoon dogs
Wyoming first U.S. state to outlaw abortion pills
Tanzania launches investigations as strange disease kills 5 people
WHO sees COVID posing similar threat to flu this year
New VEXAS syndrome identified in Portugal


Missouri ordered to reduce pollution levels

Brazilian researchers discover terrifying rocks made up of plastic debris
Glacier found near Mars equator
Neolithic farmers reduced lactose in milk
Webb captures rarely seen prelude to supernova
Arctic climate modeling too conservative