Overview
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
Description
A novel mitochondrial disease arises from mutations in HPDL, which codes for 4-hydroxyphenylpyruvate dioxygenase-like protein. The main purpose of this study is to establish a patient registry to gather medical data from consenting HPDL mutation patients worldwide. From longitudinal data, we will be able to figure out the natural history of the disease, and genotype-phenotype correlation. Dry blood spots will be collected to develop biomarkers to understand the disease better.
Eligibility
Inclusion Criteria:
- Any individuals diagnosed with HPDL variants
- Clinical diagnosis can include:
- HPDL-related hereditary spastic paraplegia (HSP)
- HPDL-related neonatal mitochondrial encephalopathy
- Spastic paraplegia -83 (SPG83)
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA)
Exclusion Criteria:
- Any known genetic abnormality (other than HPDL mutation)
- Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and/or would ultimately prevent the completion of study procedures