Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria

L-2-hydroxiglutaric aciduria (L2HGA) is a rare, childhood-onset, organic aciduria, with characteristic clinical (cerebellar ataxia) and neuroimaging (subcortical leukodystrophy) features. Movement disorders in this condition are usually of hyperkinetic type. Herein is reported the case of two adult...

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Published in:	Parkinsonism & related disorders Vol. 86; pp. 45 - 47
Main Authors:	Malaquias, Maria João, Costa, Diogo, Pinto, Eduarda, Videira, Gonçalo, Oliveira, Jorge, Freixo, João Parente, Vilarinho, Laura, Magalhães, Marina
Format:	Journal Article
Language:	English
Published:	England Elsevier Ltd 01-05-2021
Subjects:	Atypical parkinsonism Brain - pathology Brain Diseases, Metabolic, Inborn - complications Female Humans Inborn error of metabolism Iron deposition Iron Metabolism Disorders - genetics L-2-hydroxiglutaric aciduria Magnetic Resonance Imaging Male Middle Aged Parkinsonian Disorders - genetics Parkinsonism Pedigree Parkinsonism Iron deposition Inborn error of metabolism L-2-hydroxiglutaric aciduria Atypical parkinsonism
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Abstract	L-2-hydroxiglutaric aciduria (L2HGA) is a rare, childhood-onset, organic aciduria, with characteristic clinical (cerebellar ataxia) and neuroimaging (subcortical leukodystrophy) features. Movement disorders in this condition are usually of hyperkinetic type. Herein is reported the case of two adult siblings with recent L2HGA diagnosis, presenting with dopa-responsive parkinsonism and MRI iron deposition.
AbstractList	L-2-hydroxiglutaric aciduria (L2HGA) is a rare, childhood-onset, organic aciduria, with characteristic clinical (cerebellar ataxia) and neuroimaging (subcortical leukodystrophy) features. Movement disorders in this condition are usually of hyperkinetic type. Herein is reported the case of two adult siblings with recent L2HGA diagnosis, presenting with dopa-responsive parkinsonism and MRI iron deposition.
Author	Vilarinho, Laura Malaquias, Maria João Pinto, Eduarda Magalhães, Marina Freixo, João Parente Videira, Gonçalo Oliveira, Jorge Costa, Diogo
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BackLink	https://www.ncbi.nlm.nih.gov/pubmed/33839641$$D View this record in MEDLINE/PubMed
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SubjectTerms	Atypical parkinsonism Brain - pathology Brain Diseases, Metabolic, Inborn - complications Female Humans Inborn error of metabolism Iron deposition Iron Metabolism Disorders - genetics L-2-hydroxiglutaric aciduria Magnetic Resonance Imaging Male Middle Aged Parkinsonian Disorders - genetics Parkinsonism Pedigree
Title	Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria
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