Clinical manifestations associated with the domain-containing protein 2 (DDHD2) gene mutation in an Iranian family with Spastic Paraplegia 54

Conclusion: The clinical symptoms in our cases were similar to the previously reported phenotype of SPG54. Our results deepen the molecular and clinical spectrum of SPG54 to facilitate future diagnoses.
Source: Neurodegenerative Diseases - Category: Neurology Source Type: research