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Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia

PARKINSONISM & RELATED DISORDERS (2023)

A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan

Meng-Chen Wu et al.

Summary: This study identified the genetic causes of dystonia in an Asian population and provided insights into the genetic architecture and clinical spectrum of the disease.

JOURNAL OF MOLECULAR DIAGNOSTICS (2022)

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Article Biochemistry & Molecular Biology

IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder

Anna Kuukasjarvi et al.

Summary: The etiology of dystonia disorders is complex and can be elucidated using next-generation sequencing, which has revealed a deleterious heterozygous truncating variant in the IMPDH2 gene in a large Finnish family with a dominantly inherited dystonia-tremor disease. This defect leads to IMPDH2 deficiency in patient cells, highlighting the important link between guanine metabolism, dopamine biosynthesis, and dystonia. IMPDH2 is reported as a new gene associated with dystonia, emphasizing its role in the disease entity.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

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Article Clinical Neurology