[Initial symptoms and mode of neurological progression in spinocerebellar ataxia type 6 (SCA6)]

Rinsho Shinkeigaku. 1998 Jun;38(6):489-94.
[Article in Japanese]

Abstract

Spinocerebellar ataxia type 6 (SCA6) is genetically defined as a group of SCA characterized by late-onset pure cerebellar ataxia clinically and by a small CAG repeat expansion in the gene encoding the alpha 1A-voltage-dependent-Ca channel subunit (CACNL1A4) on chromosome 19p13.1 genetically. We analyzed the initial symptoms and the mode of progression in this disorder on 25 genetically verified patients. The initial symptoms were recurrent episodes of transient vertigo (72%) or unsteady gait (28%). Neurologically, they showed apparent gaze-evoked nystagmus (92%), transient positional nystagmus (83%), and periodic alternating nystagmus (4%), in addition to cerebellar ataxia. In addition to these episodic symptoms, all patients developed progressive cerebellar ataxia over years. These fluctuating symptoms at the initial stage of the illness were clearly different from those of other SCA, rather overlapping with those of episodic ataxia type 2 (EA2), an allelic disorder of SCA6. The clinical similarity indicates that there might be a common mechanism at least in part causing these two disorders. The mode of progression and their neurological features were also presented.

Publication types

  • English Abstract

MeSH terms

  • Adult
  • Aged
  • Calcium Channels / genetics
  • Disease Progression
  • Female
  • Humans
  • Male
  • Middle Aged
  • Neurologic Examination
  • Nystagmus, Pathologic / etiology
  • Spinocerebellar Degenerations / classification
  • Spinocerebellar Degenerations / genetics
  • Spinocerebellar Degenerations / physiopathology*
  • Trinucleotide Repeats
  • Vestibular Diseases / etiology

Substances

  • Calcium Channels