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GENATLAS PHENOTYPE
last update : 30-09-2020
Symbol HPDLD
Location 1p34.1
Name HPDL deficiency
Other name(s)
  • Cerebral palsy, spastic quadriplegic 1
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
  • Corresponding gene HPDL
    Other symbol(s) CPSQ1, NEDSWMA
    Main clinical features
  • primary feature range from severe spastic movement disorders with onset in infancy to uncomplicated juvenile-onset hereditary spastic paraplegia (HSP)
  • spastic movement disorder with broad clinical variability
  • motor developmental delay, intellectual impairment, microcephaly, and seizures/epilepsy
  • elevated lactate in blood
  • histology of skeletal muscle displayed fiber size variation
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    mental retardation
    Type disease
    Remark(s) . missense variant c.149G>A (p.Gly50Asp) is consistently associated with isolated spastic paraplegia evolving in the second decade of life and currently no additional pathologies (PMID: 32707086))