Autosomal recessive form of periventricular heterotopia

V. L. Sheen, M. Topçu, S. Berkovic, D. Yalnizoglu, I. Blatt, A. Bodell, R. S. Hill, V. S. Ganesh, T. J. Cherry, Y. Y. Shugart, C. A. Walsh

Research output: Contribution to journalArticle

Abstract

Background: Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant inheritance pattern. Objective: To classify cortical malformation syndromes associated with PH. Methods: Analyses using microsatellite markers directed toward genomic regions of FLNA and to a highly homologous autosomal gene, FLNB, were performed on two pedigrees to evaluate for linkage with either filamin gene. Results: Two consanguineous pedigrees with PH that suggest an autosomal recessive inheritance pattern are reported. MRI of the brain revealed periventricular nodules of cerebral gray matter intensity, typical for PH. Seizures or developmental delay appeared to be a common presenting feature. Microsatellite analysis suggested no linkage to FLNA or FLNB. Conclusions: Autosomal recessive PH is another syndromic migrational disorder, distinct from X-linked dominant PH. Further classification of these different syndromes will provide an approach for genetic evaluation.

Original languageEnglish (US)
Pages (from-to)1108-1112
Number of pages5
JournalNeurology
Volume60
Issue number7
StatePublished - Apr 8 2003

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Periventricular Nodular Heterotopia
Filamins
Inheritance Patterns
Pedigree
Microsatellite Repeats
Group II Malformations of Cortical Development
Genes
X-Linked Genes
Seizures
Heterotopia, Periventricular, Autosomal Recessive
Mutation
Brain

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Sheen, V. L., Topçu, M., Berkovic, S., Yalnizoglu, D., Blatt, I., Bodell, A., ... Walsh, C. A. (2003). Autosomal recessive form of periventricular heterotopia. Neurology, 60(7), 1108-1112.

Autosomal recessive form of periventricular heterotopia. / Sheen, V. L.; Topçu, M.; Berkovic, S.; Yalnizoglu, D.; Blatt, I.; Bodell, A.; Hill, R. S.; Ganesh, V. S.; Cherry, T. J.; Shugart, Y. Y.; Walsh, C. A.

In: Neurology, Vol. 60, No. 7, 08.04.2003, p. 1108-1112.

Research output: Contribution to journalArticle

Sheen, VL, Topçu, M, Berkovic, S, Yalnizoglu, D, Blatt, I, Bodell, A, Hill, RS, Ganesh, VS, Cherry, TJ, Shugart, YY & Walsh, CA 2003, 'Autosomal recessive form of periventricular heterotopia', Neurology, vol. 60, no. 7, pp. 1108-1112.
Sheen VL, Topçu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A et al. Autosomal recessive form of periventricular heterotopia. Neurology. 2003 Apr 8;60(7):1108-1112.
Sheen, V. L. ; Topçu, M. ; Berkovic, S. ; Yalnizoglu, D. ; Blatt, I. ; Bodell, A. ; Hill, R. S. ; Ganesh, V. S. ; Cherry, T. J. ; Shugart, Y. Y. ; Walsh, C. A. / Autosomal recessive form of periventricular heterotopia. In: Neurology. 2003 ; Vol. 60, No. 7. pp. 1108-1112.
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AU - Bodell, A.

AU - Hill, R. S.

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AU - Walsh, C. A.

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