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Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration

8 Nov 2019

Abstract excerpt

Cerebral choline metabolism is crucial for normal brain function, and its homoeostasis depends on carrier-mediated transport. Here, we report on four individuals from three families with neurodegenerative disease and homozygous frameshift mutations (Asp517Metfs*19, Ser126Metfs*8, and Lys90Metfs*18) in the SLC44A1 gene encoding choline transporter-like protein 1. Clinical features included progressive ataxia,...

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PMID: 31855247
DOI: 10.1093/brain/awz376

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