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Article

Neurotransmitter abnormalities and response to supplementation in SPG11.

Molecular genetics and metabolism - 1 Sept 2012

Vanderver Adeline, Tonduti Davide, Auerbach Sarah, Schmidt Johanna L, Parikh Sumit, Gowans Gordon C, Jackson Kelly E, Brock Pamela L, Patterson Marc, Nehrebecky Michelle, Godfrey Rena, Zein Wadih M, Gahl William, Toro Camilo

Abstract excerpt

OBJECTIVE: To report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with l-dopa/carbidopa and sapropterin. DESIGN: Case reports. SETTING: National Institutes of Health in the Undiagnosed Disease Program; Children's National Medical Center in the Myelin Disorders Bioregistry Program. PATIENTS: Four SPG11 patients with a clinical picture of progressive...

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Identifiers

PMID: 22749184
DOI: 10.1016/j.ymgme.2012.05.020
PMCID: PMC3517733

Genes

SPG11

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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