Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic

J Neurol Sci. 2009 Oct 15;285(1-2):121-4. doi: 10.1016/j.jns.2009.06.027. Epub 2009 Jul 15.

Abstract

Background: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia associated with varying phenotypic variability. It was reported that a few of SCA3/MJD patients showed marked spastic paraplegia with or without cerebellar ataxia, which was partially first diagnosed as hereditary spastic paraplegia (HSP) and considered to be a new subtype (subtype V). But the data in China is still absent.

Objective: To investigate the mutation frequency and clinical features of subtype V of SCA3/MJD in Chinese patients with HSP.

Methods: Mutation detection of MJD1 gene was carried out in 46 AD-HSP families and 58 sporadic cases.

Results: Expanded CAG repeats that ranged from 64 to 81 of MJD1 gene were found in six probands from 46 AD-HSP families (13%, 6/46). No abnormal repeat expansion was found in sporadic cases (0/58). The initial symptoms of six SCA3 cases were all spasticity in the lower limbs, and nystagmus, dysphagia and dysarthria that occurred with disease progression seemed more frequent than HSP.

Conclusion: Subtype V of SCA3/MJD is not rare in China, but it is hard to distinguish between HSP and SCA3/MJD only by clinical manifestation and MRI, and MJD1 gene should be detected routinely in the patients diagnosed as HSP in clinic.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Ataxin-3
  • Base Sequence
  • Child
  • China
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Family
  • Female
  • Humans
  • Machado-Joseph Disease / diagnosis*
  • Machado-Joseph Disease / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Paraplegia / diagnosis*
  • Paraplegia / genetics*
  • Phenotype
  • Repressor Proteins / genetics*
  • Trinucleotide Repeat Expansion*
  • Young Adult

Substances

  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • ATXN3 protein, human
  • Ataxin-3