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Article

Dystonia as an early and prominent feature in a patient with CYP2U1 gene mutation: expanding the phenotype of SPG56-a case report.

Orphanet journal of rare diseases - 27 Apr 2026

Alhamwy Zeina, Senjab Alaa, Al-Bitar Ahmad, Alasmar Diana

Abstract excerpt

Hereditary Spastic Paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders primarily characterized by progressive lower limb spasticity and weakness. Among them, Spastic Paraplegia Type 56 (SPG56) is a rare autosomal recessive form caused by CYP2U1 mutations. While spasticity is the hallmark of SPG56, recent reports have shown expanding phenotypic variability, including dystonia. We report an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42046106
DOI: 10.1186/s13023-026-04349-8
PMCID: PMC13277134

Genes

CYP2U1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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