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Connect & DownloadChildhood-onset neurodegeneration with cerebellar ataxia and cognitive decline (CONDCAC) is characterized by the onset of progressive gait and truncal ataxia in early childhood. Affected individuals have muscle weakness and atrophy and sensorimotor axonal neuropathy; some may lose ambulation. Additional features include cognitive decline or learning disabilities. Brain imaging shows cerebellar atrophy (Delle Vedove et al., 2022). It is caused by heterozygous gain-of-function mutation in the CAPRIN1 gene (601178). Heterozygous loss-of-function mutation in the CAPRIN1 gene causes a different neurodevelopmental disorder (Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder NEDLAAD; 620782). Source: OMIM
Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
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