This post has been self-published on Youth Ki Awaaz by Sukant Khurana. Just like them, anyone can publish on Youth Ki Awaaz.


More from Sukant Khurana

Originally posted at


By Koushani Das, Farooq Ali Khan, Abhishek Kumar, Raamesh Gowri Raghavan, and Sukant Khurana

Photo by Joey Csunyo on Unsplash


Batten’s disease, described in 1903 after a British paediatrician named Frederick Batten, is one of the most unfamiliar, fatal, and inherited disorder of the nervous system which generally occurs in childhood.

Batten’s disease is referred to as the juvenile form of NCL (Neuronal ceroid lipofuscinosis). The human hereditary ceroid-lipofuscinosis are a group of autosomally recessive inherited diseases which is caused by accumulation of autofluorescent lysosomal storage bodies in the cells and neuronal degeneration of nervous system. (1)


Batten’s disease has been categorized as a fatal disease occurring in every 2 to 4 of every 100,000 living United states population. The symptoms of this disease becomes evident between 5 to 15 years of age. Batten’s disease is more common in Finland, Sweden and other parts of Northern Europe including Canada. There are cases still not known in the Island of Ireland (2) (3)


Infantile NCL — before age 2.

Late infantile NCL — between 2 to 4 years of age, normal life span 8 to 12 years .

Juvenile NCL- between ages 5 and 8.

Adult NCL — begins before age 40.



Early signs of this disease is not that distinct ranging from personality changes, slow paced learning, cognitive decline and clumsiness.

Progressive loss of vision with macular degeneration, damage to optic nerves and abnormal accumulation of colored pigment on the retina (retinitis pigmentosa)

Children often lose their eyesight by age 10 (4)

With increasing age, symptoms of dementia become evident and motor abnormalities is pronounced similar to that of Parkinson’s disease.

Muscular spasms, speech disturbances, paralysis of all four limbs ( quadriparesis) , mental disturbance including hallucinations and anxiety becomes common.


Batten’s disease is mainly caused due to mutation of the CLN3 gene which is situated on the short arm (p) of the chromosome number 16.

CLN3 gene basically provides instruction to produce a protein called battenin. This protein is located in the lysosomes and the endosomes. The function of this protein is not well defined. (5)

Researchers suspect the fact that Batten’s disease is caused by an unknown alteration in the cell due to which the body is not able to recycle or break down fats and the proteins and sugars associated with it and hence they form lipopigments which gets accumulated in the nerves and the brain cells are affected. (6)


Diagnosis of batten’s disease ensures a detailed patient history because many at times, this disease is mistaken for epilepsy , Schizophrenia or any other mental retardation.

Vision loss is the very first sign that can be recognized. Electroretinography (ERG) can be performed to test the retina’s electrical response to light stimulation and can be used to detect pigmentary degeneration or optic nerve damage.

Increased amount of dolichol ,a long chain unsaturated organic compound in urine can confirm this disease. (7)

Biopsy(sample of tissue from skin) is done to confirm deposits in skin cells especially from sweat glands

Computed Tomography (CT) or MRI testing can be done to confirm the areas of the brain that are decaying or “atrophic”.

DNA Analysis:If the families are known where the mutation of the CLN3 gene has occurred, DNA Analysis can be used to confirm the prenatal diagnosis. DNA Analysis can be used to detect unaffected carriers of this disease for genetic counselling. (8)


Treatment related to Batten’s disease is yet unknown but some current ongoing studies may prove to be beneficial.

Use of anticonvulsant drugs like Valproate and Lamotrigine can be used to control seizures which costs around $ 80 for thirty 100 mg tablets. (9)

Physical and occupational therapy can help the patients.

Hematopoietic Stem cell treatment may be beneficial though not recommended.

Genetic counselling is highly recommended.


Bone marrow transplantation in Batten’s disease- A patient received bone marrow transplantation and the effect on the lymphocytes and the cells in the skin was monitored through an electron microscope for a period of 9 months. So, bone marrow transplantation did not prove to be much beneficial but might prevent or halt the onset of the clinical symptoms .(10)

Batten’s disease in West of Scotland( 1974–1995)- 12 children were diagnosed with neuronal ceroid lipofuscinosis (NCL) in West of Scotland. Out of them 5 or 6 cases showed granular osmiophilic deposits (GROD) rather than fingerprint inclusion bodies when measured through an electron microscope.Four of these five cases also failed to portray vacuolation of lymphocytes. (11)

Evaluation of patients from Turkey (1999)- 36 patients (16 girls and 20 boys) were taken for evaluation . Out of these, 3 patients were classified as infantile NCL, 11 were late infantile NCL, 5 were juvenile type NCL, and 17 were Turkish variant NCL. The Turkish variant NCL showed a severe case regarding seizures and EEG showed abnormal features with an occipital spike. Researchers found out that this disease is quite frequent in Turkey due to high rates of consanguineous marriages. (12)


Born in 2007, Jurica was a young patient from Siberia and she was admitted to Beijing Puhua International Hospital for stem cell treatment for Batten’s disease.

Before Stem cell treatment, Jurica’s spasms lasted for several minutes. She had slow involuntary movements of both hands.

She was unable to pronounce simple words like “Mom” and “Ah” and her pronunciation was poor. She was unable to see well. She even could not maintain herself in a sitting position.

After her stem cell treatment, her sleeping improved and could control her tongue better and could grip things with better strength and motor control.” (13)


Department of Genetic Medicine at Weill Cornell Medical College in New York City- Conducting a gene therapy research on the CLN2 gene. The basic purpose of this research is to see whether gene transfer surgery in which an experimental drug named as AAVrh.10CUhCLN2 is introduced to the brain and to check out whether this process will slow down the progression of this disease.(14)

University Of Rochester Medical Center- Conducting a clinical trial to study whether mycophenolate (CellCept) is safe and can be tolerated by young patients suffering from Juvenile Neuronal Ceroid Lipofuscinosis. (14)

National Institute Of Health (NIH)- Declared in 2013, a new potential drug has been invented from hydroxylamine called NtBuHA which has been tested in mice with Batten’s disease and was found to increase the lifespan of the animal. Researchers hope that this drug will be useful to treat infantile Batten’s Disease. (15)

Food and drug Administration (FDA)- published in April 2017, FDA has approved Brineura (Cerliponase alfa) as a treatment for Batten’s disease.Brineura is administered to the cerebrospinal fluid by infusion which lasts upto 4.5 hours. This drug has been reported to have certain side effects.(16)


Batten disease support and Research Association-

1175 Dublin Road.

Columbus, OH 43215 USA

Toll-free: (866) 648–8718


Children’s Brain Disease Foundation [A Batten Disease Resource]

Parnassus Heights Medical Building, Suite 900

Suite 900

San Francisco, CA 94117

Tel: 415–665–3003

Fax: 415–665–3003


Charlotte and Gwyneth Grey Foundation to cure Batten disease

6033 West Century Blvd Suite 350

Los Angeles, CA 90045 USA



Batten’s disease is not contagious but unfortunately not preventable. Till date it has always been fatal. In most cases affected individuals become bedridden and unable to communicate and generally results into a life-threatening condition by late twenties , but recent studies and research have definitely proved to be beneficial.


1. Neuronal ceroid lipofuscinosis (;2-R/full)

2.overview of batten’s disease


4.loss of vision-(

5.CLN3 gene( function)

6.Mutation in CLN1,CLN2,CLN3 gene

7. Increased dolichol


8.Genetic counselling/gene review-


10. Bone marrow transplantation- study in West Scotland(

12. Case study in Turkey (

13. Case story of a Siberian girl


15. National Institute Of Health

16. Food and Drug Administration

17.Juvenile ceroid lipofuscinosi

18.Stem Cell Treatment–

19. Different forms of Batten’s disease-



Dr. Sukant Khurana runs an academic research lab and several tech companies. He is also a known artist, author, and speaker. You can learn more about Sukant at or and if you wish to work on biomedical research, neuroscience, sustainable development, artificial intelligence or data science projects for public good, you can contact him at or by reaching out to him on linkedin

Youth Ki Awaaz is an open platform where anybody can publish. This post does not necessarily represent the platform's views and opinions.

You must be to comment.

More from Sukant Khurana

Similar Posts

By vigorpopg

By vigorpopg

By Concert Care

    If you do not receive an email within the next 5 mins, please check your spam box or email us at

      If you do not receive an email within the next 5 mins, please check your spam box or email us at

        If you do not receive an email within the next 5 mins, please check your spam box or email us at

        Wondering what to write about?

        Here are some topics to get you started

        Share your details to download the report.

        We promise not to spam or send irrelevant information.

        Share your details to download the report.

        We promise not to spam or send irrelevant information.

        An ambassador and trained facilitator under Eco Femme (a social enterprise working towards menstrual health in south India), Sanjina is also an active member of the MHM Collective- India and Menstrual Health Alliance- India. She has conducted Menstrual Health sessions in multiple government schools adopted by Rotary District 3240 as part of their WinS project in rural Bengal. She has also delivered training of trainers on SRHR, gender, sexuality and Menstruation for Tomorrow’s Foundation, Vikramshila Education Resource Society, Nirdhan trust and Micro Finance, Tollygunj Women In Need, Paint It Red in Kolkata.

        Now as an MH Fellow with YKA, she’s expanding her impressive scope of work further by launching a campaign to facilitate the process of ensuring better menstrual health and SRH services for women residing in correctional homes in West Bengal. The campaign will entail an independent study to take stalk of the present conditions of MHM in correctional homes across the state and use its findings to build public support and political will to take the necessary action.

        Saurabh has been associated with YKA as a user and has consistently been writing on the issue MHM and its intersectionality with other issues in the society. Now as an MHM Fellow with YKA, he’s launched the Right to Period campaign, which aims to ensure proper execution of MHM guidelines in Delhi’s schools.

        The long-term aim of the campaign is to develop an open culture where menstruation is not treated as a taboo. The campaign also seeks to hold the schools accountable for their responsibilities as an important component in the implementation of MHM policies by making adequate sanitation infrastructure and knowledge of MHM available in school premises.

        Read more about his campaign.

        Harshita is a psychologist and works to support people with mental health issues, particularly adolescents who are survivors of violence. Associated with the Azadi Foundation in UP, Harshita became an MHM Fellow with YKA, with the aim of promoting better menstrual health.

        Her campaign #MeriMarzi aims to promote menstrual health and wellness, hygiene and facilities for female sex workers in UP. She says, “Knowledge about natural body processes is a very basic human right. And for individuals whose occupation is providing sexual services, it becomes even more important.”

        Meri Marzi aims to ensure sensitised, non-discriminatory health workers for the needs of female sex workers in the Suraksha Clinics under the UPSACS (Uttar Pradesh State AIDS Control Society) program by creating more dialogues and garnering public support for the cause of sex workers’ menstrual rights. The campaign will also ensure interventions with sex workers to clear misconceptions around overall hygiene management to ensure that results flow both ways.

        Read more about her campaign.

        MH Fellow Sabna comes with significant experience working with a range of development issues. A co-founder of Project Sakhi Saheli, which aims to combat period poverty and break menstrual taboos, Sabna has, in the past, worked on the issue of menstruation in urban slums of Delhi with women and adolescent girls. She and her team also released MenstraBook, with menstrastories and organised Menstra Tlk in the Delhi School of Social Work to create more conversations on menstruation.

        With YKA MHM Fellow Vineet, Sabna launched Menstratalk, a campaign that aims to put an end to period poverty and smash menstrual taboos in society. As a start, the campaign aims to begin conversations on menstrual health with five hundred adolescents and youth in Delhi through offline platforms, and through this community mobilise support to create Period Friendly Institutions out of educational institutes in the city.

        Read more about her campaign. 

        A student from Delhi School of Social work, Vineet is a part of Project Sakhi Saheli, an initiative by the students of Delhi school of Social Work to create awareness on Menstrual Health and combat Period Poverty. Along with MHM Action Fellow Sabna, Vineet launched Menstratalk, a campaign that aims to put an end to period poverty and smash menstrual taboos in society.

        As a start, the campaign aims to begin conversations on menstrual health with five hundred adolescents and youth in Delhi through offline platforms, and through this community mobilise support to create Period Friendly Institutions out of educational institutes in the city.

        Find out more about the campaign here.

        A native of Bhagalpur district – Bihar, Shalini Jha believes in equal rights for all genders and wants to work for a gender-equal and just society. In the past she’s had a year-long association as a community leader with Haiyya: Organise for Action’s Health Over Stigma campaign. She’s pursuing a Master’s in Literature with Ambedkar University, Delhi and as an MHM Fellow with YKA, recently launched ‘Project अल्हड़ (Alharh)’.

        She says, “Bihar is ranked the lowest in India’s SDG Index 2019 for India. Hygienic and comfortable menstruation is a basic human right and sustainable development cannot be ensured if menstruators are deprived of their basic rights.” Project अल्हड़ (Alharh) aims to create a robust sensitised community in Bhagalpur to collectively spread awareness, break the taboo, debunk myths and initiate fearless conversations around menstruation. The campaign aims to reach at least 6000 adolescent girls from government and private schools in Baghalpur district in 2020.

        Read more about the campaign here.

        A psychologist and co-founder of a mental health NGO called Customize Cognition, Ritika forayed into the space of menstrual health and hygiene, sexual and reproductive healthcare and rights and gender equality as an MHM Fellow with YKA. She says, “The experience of working on MHM/SRHR and gender equality has been an enriching and eye-opening experience. I have learned what’s beneath the surface of the issue, be it awareness, lack of resources or disregard for trans men, who also menstruate.”

        The Transmen-ses campaign aims to tackle the issue of silence and disregard for trans men’s menstruation needs, by mobilising gender sensitive health professionals and gender neutral restrooms in Lucknow.

        Read more about the campaign here.

        A Computer Science engineer by education, Nitisha started her career in the corporate sector, before realising she wanted to work in the development and social justice space. Since then, she has worked with Teach For India and Care India and is from the founding batch of Indian School of Development Management (ISDM), a one of its kind organisation creating leaders for the development sector through its experiential learning post graduate program.

        As a Youth Ki Awaaz Menstrual Health Fellow, Nitisha has started Let’s Talk Period, a campaign to mobilise young people to switch to sustainable period products. She says, “80 lakh women in Delhi use non-biodegradable sanitary products, generate 3000 tonnes of menstrual waste, that takes 500-800 years to decompose; which in turn contributes to the health issues of all menstruators, increased burden of waste management on the city and harmful living environment for all citizens.

        Let’s Talk Period aims to change this by

        Find out more about her campaign here.

        Share your details to download the report.

        We promise not to spam or send irrelevant information.

        A former Assistant Secretary with the Ministry of Women and Child Development in West Bengal for three months, Lakshmi Bhavya has been championing the cause of menstrual hygiene in her district. By associating herself with the Lalana Campaign, a holistic menstrual hygiene awareness campaign which is conducted by the Anahat NGO, Lakshmi has been slowly breaking taboos when it comes to periods and menstrual hygiene.

        A Gender Rights Activist working with the tribal and marginalized communities in india, Srilekha is a PhD scholar working on understanding body and sexuality among tribal girls, to fill the gaps in research around indigenous women and their stories. Srilekha has worked extensively at the grassroots level with community based organisations, through several advocacy initiatives around Gender, Mental Health, Menstrual Hygiene and Sexual and Reproductive Health Rights (SRHR) for the indigenous in Jharkhand, over the last 6 years.

        Srilekha has also contributed to sustainable livelihood projects and legal aid programs for survivors of sex trafficking. She has been conducting research based programs on maternal health, mental health, gender based violence, sex and sexuality. Her interest lies in conducting workshops for young people on life skills, feminism, gender and sexuality, trauma, resilience and interpersonal relationships.

        A Guwahati-based college student pursuing her Masters in Tata Institute of Social Sciences, Bidisha started the #BleedwithDignity campaign on the technology platform, demanding that the Government of Assam install
        biodegradable sanitary pad vending machines in all government schools across the state. Her petition on has already gathered support from over 90000 people and continues to grow.

        Bidisha was selected in’s flagship program ‘She Creates Change’ having run successful online advocacy
        campaigns, which were widely recognised. Through the #BleedwithDignity campaign; she organised and celebrated World Menstrual Hygiene Day, 2019 in Guwahati, Assam by hosting a wall mural by collaborating with local organisations. The initiative was widely covered by national and local media, and the mural was later inaugurated by the event’s chief guest Commissioner of Guwahati Municipal Corporation (GMC) Debeswar Malakar, IAS.

        Sign up for the Youth Ki Awaaz Prime Ministerial Brief below