hereditary spastic paraplegia 3A

Term ID

DOID:0110791

Synonyms

• autosomal dominant familial spastic paraplegia 1
• autosomal dominant spastic paraplegia 3
• autosomal dominant spastic paraplegia type 3
• FSP1
• SPG3A
• strumpell disease

Definition

A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. https://www.ncbi.nlm.nih.gov/pubmed/11685207

References

• GARD:5041
• ICD10CM:G11.4
• OMIM:182600
• ORDO:100984

Ontology

Human Disease   ( DOID:0110791 )