Childhood Onset Neurodegenerative disease with Brain Atrophy.​ A severe neurological disease that begins in children age of 3 to 7 years. The brain disease is characterized by normal development during the first years of the child's life. While at the age of two and a half, cognitive and motor developmental regression are manifested, including speech difficulties, walking difficulties and gradual loss of motor functioning (motion, fine motor skills, independent eating) when the child reaches the age of 15 to 20 years.


INTRODUCTION

According to Professor Orly Al-Peleg, director of the Genetics department at Hadassah, and a professor at the Hebrew University Medical School, "the UBTF is a sad disease, harmful to the children who have evolved several years in order and then they go out of balance, They are ordinary children who begin to limp in one clear day, forget words that were previously recognized, and from functioning and developed children they gradually become children with severe and unexplained retardation and over the years reach a nursing state"


SCIENTIFIC REPORTS

UBTF Gain-of-Function

Heterozygous De Novo UBTF Gain-of-Function Variant
Is Associated with Neurodegeneration in Childhood. Click here to PDF 

Mutation in UBTF

A recurrent de novo missense mutation in UBTF causes
developmental neuroregression. 

Click here to PDF 

CONDBA

CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills.

Click here for the entire report 

Genecards

This gene encodes a member of the HMG-box DNA-binding protein family. Click here for the entire report 

ARTICLES

Error in one gene 

Mysterious children's neurological disease is traced to a single error in one gene.

Click here for the entire article 

Single Mutation

Scientists Notice Rare Children's Disease, Trace to Single Mutation

The sudden onset of neurological deterioration in youngsters has now been identified as a new genetic disease caused by a single mutation.

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Mysterious illness receives a diagnosis

Addison Cannon, 9, of Amherst, lost her ability to speak and walk from a very aggressive deterioration in her brain that left doctors baffled. 

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MEDIA

 Elya - The real Pippi Långstrump

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