2019
DOI: 10.1093/brain/awz376
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Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration

Abstract: 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, tremor, cognitive decline, dysphagia, optic atrophy, dysarthria, as well as urinary and bowel incontine… Show more

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Cited by 23 publications
(26 citation statements)
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“…No significant alterations were observed in homocysteine production by the mutated PEMT; therefore, it was speculated an altered PC production could be causal [79]. Our recent work with individuals that develop a new type of childhood neurodegeneration showed an CTL1 mutant fibroblasts increased PC formation from PE methylation, which could be important for future treatments if proved that same is the case in the patients' neurons or stem-cell derived neurons [7].…”
Section: The Critical Regulators Of Pls Synthesis In the Nervous Systemmentioning
confidence: 98%
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“…No significant alterations were observed in homocysteine production by the mutated PEMT; therefore, it was speculated an altered PC production could be causal [79]. Our recent work with individuals that develop a new type of childhood neurodegeneration showed an CTL1 mutant fibroblasts increased PC formation from PE methylation, which could be important for future treatments if proved that same is the case in the patients' neurons or stem-cell derived neurons [7].…”
Section: The Critical Regulators Of Pls Synthesis In the Nervous Systemmentioning
confidence: 98%
“…The Pla2g6 mutation and the C19orf12 mutation are involved in PL metabolism [120,121]; specifically, a case with the absence of C19orf12 showed pathologies including Lewy bodies, tau proteins, tangles, and spheroids [122]. In addition to the current list of mutations causative of NBIA, we recently established the involvement of CTL1 in a novel early-onset neurodegenerative disease [7]. CTL1, a choline transporter expressed on both the plasma and mitochondrial membranes, is also pivotal for CNS health.…”
Section: Iron Accumulation and Oxidative Stressmentioning
confidence: 99%
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“…Although there have been no reports of diseases due to CTL1 failure, a new neurodegenerative disease caused by frameshift mutations in the SLC44A1 gene encoding CTL1 was recently described [52]. This neurodegenerative disease causes a variety of neurological symptoms, including progressive ataxia, dysarthria, dysphagia, and cognitive impairment from childhood, and brain magnetic resonance imaging (MRIs) demonstrated cerebellar atrophy and leukoencephalopathy.…”
Section: Discussionmentioning
confidence: 99%