A Severe <scp>l</scp>‐Dopa Responsive Dystonia With Slow and Continuous Improvement in a Patient With a Novel Mutation in the Tyrosine Hydroxylase Gene

Couto, Christian Marques; Vargas, Antônio Pedro; Coimbra, Fernando Dos Santos; Cunha, Olimar Leite de Assis; Braga, Lúcia Willadino

doi:10.1002/mdc3.12769

Cited by 4 publications

(2 citation statements)

References 7 publications

(10 reference statements)

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“…We compiled the summary from Dong et al, encompassing all TH deficiency cases reported through 2018 (Dong et al, 2020) and all Segawa patients published thereafter until 2023 (Atanasoska et al, 2023; Bijarnia‐Mahay et al, 2020; Champagne et al, 2022; Chen et al, 2020; Couto et al, 2019; Hou et al, 2019; Hull et al, 2021; Janssen et al, 2021; Kuseyri Hubschmann et al, 2021; Panda et al, 2022; Reyes et al, 2023; Wang et al, 2022). In total, we summarized the clinical phenotypes of all 175 reported Segawa cases.…”

Section: Case Presentationmentioning

confidence: 99%

Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes

Zhang,

Huang,

et al. 2024

Intl J of Devlp Neuroscience

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Segawa syndrome is a rare autosomal recessive form of dopa‐responsive dystonia resulting from TH gene dysfunction. Patients typically exhibit symptoms such as generalized dystonia, rigidity, tremors, infantile Parkinsonism, and pseudo‐spastic paraplegia. Levodopa is often an effective treatment. Due to its rarity, high heterogeneity, and poorly understood pathological mutation and phenotype spectrums, as well as genotype–phenotype and genotype‐treatment outcome correlations, Segawa syndrome poses diagnostic and therapeutic challenges. In our study, through clinical and molecular analyses of three Chinese Segawa patients, we re‐evaluated the pathogenicity of a TH mutation (c.880G>C;p.G294R) previously categorized as “Conflicting classifications of pathogenicity” in ClinVar. Also, we summarized the clinical phenotypes of all reported Segawa syndrome cases until 2023 and compared them with our patients. We identified a novel phenotype, “cafe‐au‐lait macules,” not previously observed in Segawa patients. Additionally, we discussed the correlation between specific genotypes and phenotypes, as well as genotypes and treatment outcomes of our three cases. Our findings aim to enhance the understanding of Segawa syndrome, contributing to improved diagnosis and treatment approaches in the future.

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Section: Case Presentationmentioning

confidence: 99%

Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes

Zhang,

Huang,

et al. 2024

Intl J of Devlp Neuroscience

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show abstract

“…llegando a describirse en dos casos, una demora de aproximadamente 20 años entre el inicio de síntomas y el diagnóstico (9,11). El compromiso inicial de una extremidad, específicamente miembro inferior, ha sido descrito como parte de la forma clásica de DRD, así como las fluctuaciones diurnas.…”

Section: Si Gch1unclassified

Distonías primarias respondedoras a levodopa (DRD): búsqueda sistemática en Latinoamérica.

Zelada-Ríos¹,

Sarapura‐Castro²,

Solórzano-Palacios³

et al. 2022

Rev Neuropsiquiatr

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Las distonías que responden a levodopa (DRD, siglas en inglés) abarcan un grupo de distonías primarias, causadas por deficiencias enzimáticas en la vía metabólica de las aminas y, por definición, comparten como característica principal su respuesta favorable y sostenida a levodopa. Existen hasta seis genes asociados a DRD, siendo el gen GCH1 el más frecuentemente involucrado. La presentación típica de esta entidad se caracteriza por su aparición en la niñez, distonía de inicio en miembros inferiores con fluctuación diurna, leve parkinsonismo y respuesta clara a dosis bajas de levodopa. Se incluye una búsqueda sistemática de la literatura con casos de DRD publicados en Latinoamérica.

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Dopa-Responsive Dystonia and Related Disorders

Furukawa

Guttman

Tomizawa

et al. 2021

Movement Disorder Emergencies

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A Severe l‐Dopa Responsive Dystonia With Slow and Continuous Improvement in a Patient With a Novel Mutation in the Tyrosine Hydroxylase Gene

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Cited by 4 publications

References 7 publications

Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes

Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes

Distonías primarias respondedoras a levodopa (DRD): búsqueda sistemática en Latinoamérica.

Dopa-Responsive Dystonia and Related Disorders

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