Differential Diagnosis

     Investigations to consider

     Nieman-Pick type C (ataxia, vertical gaze palsy associated)      NPC1 and NCP2 gene
     Metachromatic leukodystrophy (ataxia, cognitive decline)      White cell enzymes, arylsulfatase A gene
     Friedreich ataxia      FXN gene
     Ataxia telangiectasia      Alpha-fetoprotein, ATM gene
     SCA 3      SCA gene












  1. Schneider SA, Bhatia KP. Secondary dystonia--clinical clues and syndromic associations. Eur J Neurol. 2010 Jul;17 Suppl 1:52-7. doi: 10.1111/j.1468-1331.2010.03051.x. PMID: 20590809.
  2. Fung VS, Jinnah HA, Bhatia K, Vidailhet M. Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes. Mov Disord. 2013 Jun 15;28(7):889-98. doi: 10.1002/mds.25549. PMID: 23893445; PMCID: PMC4216675.