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- Title
Expanding the Phenotypic Variability of PMPCA‐Related Ataxia.
- Authors
Sanesteban‐Beceiro, Esteban; Fenollar‐Cortés, María; Herrero‐Forte, Clara; Gómez‐Mayordomo, Victor; Catalán‐Alonso, María J.; Alonso‐Frech, Fernando
- Abstract
This article discusses the expanding phenotypic variability of PMPCA-related ataxia, a genetic movement disorder caused by pathogenic variants in the PMPCA gene. The initial description of the disease included 17 patients with a non-progressive cerebellar ataxia syndrome, but since then, eight more cases have been reported, bringing the total to 25 cases from 10 different families. The clinical signs of these patients have expanded the phenotypic variability of the disease, with three phenotypic categories identified: a milder variant with non-progressive ataxia, a severe and progressive variant with multisystemic mitochondrial disease, and an intermediate phenotype with psychomotor regression and intellectual disability. The article presents two new cases of ATX-PMPCA in a previously unreported family, highlighting the clinical variability of the disorder.
- Subjects
PHENOTYPIC plasticity; ATAXIA; SPINOCEREBELLAR ataxia; CEREBRAL atrophy; CEREBELLUM degeneration
- Publication
Movement Disorders Clinical Practice, 2024, Vol 11, Issue 7, p894
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.14057