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Article

Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.

Brain : a journal of neurology - 1 Jul 2007

Strauss Kevin A, Lazovic Jelena, Wintermark Max, Morton D Holmes

Abstract excerpt

Despite early diagnosis, one-third of Amish infants with glutaryl-CoA dehydrogenase deficiency (GA1) develop striatal lesions that leave them permanently disabled. To better understand mechanisms of striatal degeneration, we retrospectively studied imaging results from 25 Amish GA1 patients homozygous for 1296C>T mutations in GCDH. Asymptomatic infants had reduced glucose tracer uptake and increased blood volume...

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Source

Identifiers

PMID: 17478444
DOI: 10.1093/brain/awm058

Genes

GCDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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