Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities (CECBA)

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OMIM®: ⁵⁷ Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA) is an autosomal dominant neurologic disorder with significant phenotypic heterogeneity, even within families. The disorder is most often diagnosed through genetic analysis with retrospective clinical phenotyping. Symptom onset is usually in early childhood, although later onset, even in adulthood, has been reported. Most affected individuals show global developmental delay from early childhood, particularly of motor and language skills. Many have mild intellectual disability; behavioral and psychiatric abnormalities such as autism and obsessive-compulsive disorder are also often observed. The movement disorder is prominent and may include cerebellar signs such as ataxia, tremor, dysmetria, poor coordination, and dysarthria. Other abnormal movements including spasticity, myoclonus, and dystonia have been reported, thus widening the phenotypic spectrum. Brain imaging is usually normal, but may show cerebellar atrophy or nonspecific white matter lesions. Variable dysmorphic facial features may also be present (summary by Thevenon et al., 2012; Jacobs et al., 2021; Wijnen et al., 2020). (614756) (Updated 08-Dec-2022)

MalaCards based summary: Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities, also known as cerebellar ataxia, nonprogressive, with mental retardation, is related to brain malformations with or without urinary tract defects and donnai-barrow syndrome, and has symptoms including ataxia An important gene associated with Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities is CAMTA1 (Calmodulin Binding Transcription Activator 1). Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and intellectual disability, mild

Orphanet: ⁵⁸ A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

UniProtKB/Swiss-Prot: ⁷³ An autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable.

Disease Ontology: ¹¹ An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has material basis in autosomal dominant inheritance of mutation in the CAMTA1 gene.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities