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July 1, 1999Journal of Neurology Neurosurgery & PsychiatryOpen Access

Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6)

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Authors

KIKinya IshikawaMWMasahiko WatanabeKYKazuo Yoshizawa

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Overview

Clinical characteristics reveal dominant Purkinje cell degeneration in SCA6 families, suggesting neurodegenerative stability.

Key Points

  • This study aims to clarify the clinical and molecular features associated with spinocerebellar ataxia type 6 (SCA6).
  • Examined two unrelated Japanese families with SCA6 for clinical and neuropathological traits.
  • Conducted morphometric analysis of brain tissue to assess neuron loss and degeneration patterns.
  • Analyzed expanded alleles in affected patients to determine genetic characteristics.
  • Purkinje cell dominant cortical cerebellar degeneration was consistently observed across three SCA6 brains.
  • Mild loss of cerebellar granule cells and inferior olivary neurons compared to Purkinje cell loss.
  • No evidence of ubiquitin immunoreactive nuclear inclusions found in the affected brains.

Cite This Study

Ishikawa et al. (1999) studied this question.

synapsesocial.com/papers/6a201d29349f479269fbe7cdhttps://doi.org/10.1136/jnnp.67.1.86
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