Article Text
Neurological rarities
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.
- Metabolic Disease
- Neurogenetics
Statistics from Altmetric.com
Linked Articles
- Editors' choice
Read the full text or download the PDF:
Other content recommended for you
- Adrenoleukodystrophy: a forgotten diagnosis in children with primary Addison's disease
- Psychiatric disease in an adolescent as a harbinger of cerebral X-linked adrenoleukodystrophy
- X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy
- The difficulty in diagnosing X linked adrenoleucodystrophy and the importance of identifying cerebral involvement
- X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis
- The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease
- ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism
- Myelopathy but normal MRI: where next?
- Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with “Lorenzo’s oil”
- Adult-onset adrenoleukodystrophy presenting with status epilepticus and psychosis