Table 4.

Summary of Hereditary Spastic Paraplegia – Maternal (Mitochondrial) Inheritance

Gene/Locus Name (Chromosome Locus 1)ProteinClinical SyndromeReferences
No SPG designationMitochondrial ATP6 geneProgressive spastic paraplegia
  • Onset: adult
  • Mild to severe symptoms
  • Variably present: axonal neuropathy, late-onset dementia, and cardiomyopathy
Verny et al [2011]

Data are compiled from the following standard references: gene symbol from HGNC; chromosomal locus, locus name, critical region, complementation group from OMIM; protein name from UniProt.

From: Hereditary Spastic Paraplegia Overview

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