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Childhood-onset neurodegeneration with brain atrophy (CONDBA)

What is Childhood-onset neurodegeneration with brain atrophy (CONDBA)?

Childhood-onset degeneration with brain atrophy is a neurodegenerative disorder characterized by a progressive loss of the motor, cognitive and social functions. It onsets between 2.5 to 7 years of age and has devastating effects after it fully progresses, with affected children unable to walk, talk and suffering from profound intellectual disability.

It is caused by a de novo mutation in the UBTF gene that creates a Glu210Lys change in the UBF protein. De novo means that the genetic alteration occurs spontaneously for reasons unknown, it is not inherited from any of the parents.

 

Synonyms

  • UBTF-Related Neurodegenerative Disorder

Childhood-onset degeneration with brain atrophy is a neurodegenerative disorder characterized by a progressive loss of the motor, cognitive and social functions. It onsets between 2.5 to 7 years of age and has devastating effects after it fully progresses, with affected children unable to walk, talk and suffering from profound intellectual disability.

It is caused by a de novo mutation in the UBTF gene that creates a Glu210Lys change in the UBF protein. De novo means that the genetic alteration occurs spontaneously for reasons unknown, it is not inherited from any of the parents.

Acknowledgement of Childhood-onset neurodegeneration with brain atrophy (CONDBA) has not been added yet.

CONDBA has been recently described in two clinical reports in the literature. In the first one (Edvardson et al. 2017) 7 individuals were identified and in the second (Toro et al. 2018) another 4. These data should be taken with caution in terms of the actual prevalence of the disease. This disorder has recently been described as new medical entity and this numbers can be an underrepresentation.

Name Abbreviation
UBTF-Related Neurodegenerative Disorder CONDBA

CONDBA is caused by a de novo mutation in the UBTF gene that creates a Glu210Lys change in the UBF protein.  The gene UBTF provides the blueprint for the production of the protein UBF. The UBF protein stimulates the production of a nucleic acid molecule known as ribosomal RNA or rRNA. This ribosomal RNA is further processed to create a structure call the ribosome. These ribosomes are in charge of reading the information present in our genes and translate it into its respective protein. The particular alteration in the UBF protein (Glu210Lys o E210K) that causes the neurodegenerative disorder, increases the ability of UBF to produce ribosomal RNA. How this in turn causes the neurodegeneration it is not fully understood. It has been proposed that an excess of ribosomal RNA could be toxic for the nerve cells and make them die.

Most of the children presented normal developmental milestones until the onset of the disease, which occurred between 2.5 to 7 years of age. The loss of the motor abilities usually precedes the loss of cognitive or social skills, but in some cases the cognitive impairment might appear first.

The first motor symptoms are loss of muscle tone or strength (hypotonia), difficulty walking (walking uncoordinated or gait ataxia) and difficulty to talk due to weakness of the muscles involved in the speech (dysarthria). As the disease progresses the motor function worsens and other symptoms appear: parkinsonism or spasms of the muscles, loss of ability to maintain the posture or walking and feeding difficulties.

Language difficulties to both communicate and understand are the first signs of cognitive dysfunction. It can progress to severe difficulty to communicate with both speech and body language and ultimately lead to the inability to understand verbal commands.

Some children have been reported to suffer from a loss of social skills presenting autistic features. Seizures may also present.

The presence of the E210K alteration in the UBTF gene can help confirm a CONDBA diagnosis.

A genetic test for the UBTF gene to identify the E120K alteration.

Unfortunately, there is not current treatment for this condition.

People with CONDBA suffer from a profound decline in their self-care abilities upon progression of the disease, needing assistance from family members or professionals on a daily basis.

Tips or Suggestions of Childhood-onset neurodegeneration with brain atrophy (CONDBA) has not been added yet.

Edvardson, S., et al. (2017). "Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood." Am J Hum Genet 101(2): 267-273.


Toro, C., et al. (2018). "A recurrent de novo missense mutation in UBTF causes developmental neuroregression." Hum Mol Genet 27(7): 1310.

New Member Community Question Created by wings77
Last updated 6 Jan 2020, 11:32 PM

Posted by wings77
6 Jan 2020, 11:32 PM

Hello CONDBA families! 

I am new to Rareshare. Our daughter was diagnosed with CONDBA 2 years ago and like the rest of you I'm sure, I've struggled to find any real information about this disease except for the one medical study that was conducted a while ago. I'd love to know when your children were diagnosed (what age) and if their symptoms are similar to our daughter's. It would be nice to not feel so alone while trying to navigate a disease that is so rare and has so little information available. Thanks so much!

Erin C

Community Resources
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Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

Community Leaders

 

Expert Questions

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31 Aug 2023, 07:26 PM

Hello all! I am a scientist working on this disease and I am trying to find families who would like to aid in our research. I am at the University of Tennessee Health Science Center in the lab of Dr. Mohammad Moshahid Khan. He has been investigating this disease since 2017. If you would like more information, please reach out to me via email (abrade11@uthsc.edu). 

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12 Jun 2022, 01:22 PM

Bom dia. Sou do Brasil e minha filha de 5 anos foi diagnosticada com a variante no gene UBTF associada a neurodegeneração OMIM: 617672. Estou em busca de um grupo de apoio para trocarmos experiências. Pode me adicionar por favor ou vocês possuem uma conta no Instagram? Obrigada

@angelicamarinho85

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12 Jun 2022, 01:14 PM

Bom dia. Sou do Brasil e minha filha de 5 anos foi diagnosticada com a variante no gene UBTF associada a neurodegeneração OMIM: 617672. Estou em busca de um grupo de apoio para trocarmos experiências. Pode me adicionar por favor ou vocês possuem uma conta no Instagram? Obrigada

@angelicamarinho85

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This question has not yet been answered


12 Jun 2022, 01:14 PM

Bom dia. Sou do Brasil e minha filha de 5 anos foi diagnosticada com a variante no gene UBTF associada a neurodegeneração OMIM: 617672. Estou em busca de um grupo de apoio para trocarmos experiências. Pode me adicionar por favor ou vocês possuem uma conta no Instagram? Obrigada

@angelicamarinho85

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This question has not yet been answered

Community User List

Sou mãe da HRM de 5 anos e recentemente diagnosticada com a variante no gene UBTF associada a neurodegeneração OMIM:617672

Sou mãe da HRM de 5 anos e recentemente diagnosticada com a variante no gene UBTF associada a neurodegeneração OMIM:617672

Sou mãe da HRM de 5 anos e recentemente diagnosticada com a variante no gene UBTF associada a neurodegeneração OMIM:617672

Recently diagnosed with mutation Glu210Lys in UBTF, gain-of-function variant

My son, AJ, was diagnosed with CONDBRA (aka UBTF-Related Neurodegenerative Disorder) in December 2017.  We live in Massachusetts.  AJ's specialists are Massachusetts General...


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