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A familial syndrome of unilateral polymicrogyria affecting the right hemisphere

B S Chang1, K A Apse, R Caraballo

  • 1Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA. bchang@bidmc.harvard.edu

Neurology
|January 13, 2006
PubMed

Insights

Familial cases of unilateral polymicrogyria (PMG), a brain malformation, were identified. This suggests a genetic cause for previously sporadic unilateral PMG, impacting development and causing seizures.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Familial syndromes of bilateral polymicrogyria (PMG) are known.
  • Unilateral PMG cases are typically reported as sporadic.

Observation:

  • Four families with multiple individuals affected by unilateral right-sided PMG on MRI were identified.
  • Pathologic confirmation of unilateral PMG was obtained in one case.
  • Clinical features included contralateral hemiparesis, developmental delay, and focal seizures.

Findings:

  • Unilateral PMG can present as a familial syndrome.
  • Evidence suggests a probable germline genetic origin for unilateral PMG.

Implications:

  • This research challenges the notion of unilateral PMG being exclusively sporadic.
  • Identifies a potential genetic basis for unilateral PMG, opening avenues for genetic counseling and research.
  • Highlights the importance of considering genetic factors in unilateral brain malformations.

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