[MIM 618 056]

Acronym for NEurodevelopmental Disorder with Cerebellar Atrophy and with or without Seizures

Prevalence < 1.106. Autosomal recessive transmission of compound heterozygous mutations of the BRAT1 gene (7p22.3) coding for the protein 'BRCA1 associated ATM activator 1' involved in DNA repair, apoptosis and mitochondrial homeostasis. The most severe genetic form causes BRAT1 encephalopathy (see this term).

Clinical presentation:

• normal neonatal period
• developmental delay: lack of eye fixation, nystagmus, rigidity, closed hands, delay or absence of speech
• epilepsy: absences, multifocal or generalized convulsions
• acquired microcephaly
• MRI: atrophy of the cerebellum and brainstem, myelinization disorders.

Anesthetic implications:

polyhandicap with or without convulsions

References : 

--        Fowkes R, Elwan M, Akay E, Mitchell CJ, Thomas RH, Lewis-Smith D.
A review of the clinical spectrum of BRAT1 disorders and case of developmental and epileptic encephalopathy surviving into adulthood.
Epilepsy & Behavior Reports, 2022 ; 19 :100549. doi.org/10.1016/j.ebr.2022.100549        

Updated: March 2023