Hereditary Spastic Paraplegia - paediatric
Gene: HPDL
17 individuals from 13 families, with a spectrum of neurologic impairment ranging from a severe congenital form without any neurological development (n = 2/17, 12%) to infantile-onset presentations (n = 10/17, 59%) with moderate to severe neurodevelopmental issues, partly with a pathology reminiscent of mitochondrial disease (Leigh-like syndrome), to juvenile-onset spastic paraplegia (n = 5/17, 29%).
Although two distinct distinct disease associations have been assigned by OMIM, these clinical presentations likely represent a continuum of severity for an underlying mitochondrial disorder.
Sources: LiteratureCreated: 2 Oct 2020, 10:56 p.m. | Last Modified: 2 Oct 2020, 11:02 p.m.
Panel Version: 0.152
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia-83 (SPG83), MIM# 619027; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome
Publications
Gene: hpdl has been classified as Green List (High Evidence).
Gene: hpdl has been classified as Green List (High Evidence).
gene: HPDL was added gene: HPDL was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086 Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome Review for gene: HPDL was set to GREEN