title: An under-recognised cause of spastic paraparesis in middle-aged women.
abstract: Having excluded common structural, inflammatory and vascular causes of a spastic paraparesis, the diagnostic yield of further clinical investigations is low. Here, we show that testing for rare metabolic and genetic causes can have important implications for both the patient and their family.
authors.affiliation: Institute of Genetic Medicine, Newcastle University, Central Parkway, , Newcastle upon Tyne, UK.
authors.forename: D
authors.initials: D
authors.lastname: Bargiela
authors.forename: G
authors.initials: G
authors.lastname: Eglon
authors.forename: R
authors.initials: R
authors.lastname: Horvath
authors.forename: P F
authors.initials: PF
authors.lastname: Chinnery
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020336:Paraparesis, Spastic / Q000235:genetics*; D010375:Pedigree
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters
keywords: Metabolic Disease; Neurogenetics