Recurrent dystonia in homocystinuria: A metabolic pathogenesis

✍ Scribed by Alex J. Sinclair; Lucy Barling; Simon Nightingale

• Book ID: 102502988
• Publisher: John Wiley and Sons
• Year: 2006
• Tongue: English
• Weight: 60 KB
• Volume: 21
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.21045

✦ Synopsis

Abstract

Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine‐unresponsive cystathionine β‐synthase deficiency. Brain MRI was normal. Two biochemical markers for homocystinuria, homocystine and methionine, were markedly elevated during periods when our patient manifested dystonia. These findings suggest that accumulation of sulfur‐containing amino acids may contribute to the pathophysiology of dystonia in patients with homocystinuria. © 2006 Movement Disorder Society