ELECTRONIC LETTER

Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes

E P Leeflang¹, S E Marsh¹, E Parrini², F Moro², D Pilz³, W B Dobyns⁴, R Guerrini⁵, J W Wheless⁶, J G Gleeson¹

¹ Department of Neurosciences, University of California at San Diego, La Jolla, California, USA
² Neurogenetics Laboratory, Istituto di Neuropsichiatria Infantile (INPE), University of Pisa, IRCCS Fondazione Stella Maris, Pisa, Italy
³ Institute for Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK
⁴ Departments of Human Genetics, Neurology, and Pediatrics, University of Chicago, Chicago, USA
⁵ Neurosciences Unit, Great Ormond Street Hospital for Sick Children and Institute of Child Health, University College London, London, United Kingdom
⁶ Department of Neurology and Pediatrics, Texas Comprehensive Epilepsy Program, University of Texas-Houston, Houston, Texas, USA

Correspondence to:
Correspondence to:
Dr Gleeson
Department of Neurosciences, MTF 312, University of California, at San Diego, La Jolla, CA 92093-0624, USA; jogleeson@ucsd.edu

Received 11 March 2003

Accepted 19 June 2003

Keywords: Periventricular nodular heterotopia; Polymicrogyria; Translocation; Mannosidase; Glutathione transferase

Abbreviations: PMG, polymicrogyria; BPP, bilateral perisylvian PMG; BPNH, bilateral periventricular nodular heterotopia; MAN1A2, mannosidase alpha, class 1A; GSTA2, glutathione S-transferase A2

The first 150 words of the full text of this article appear below.

Polymicrogyria (PMG) is a cortical development defect that results in an irregular brain surface, with multiple, small, partly fused gyri separated by shallow sulci. The perisylvian form is the most common pattern of PMG seen on magnetic resonance imaging scans of the brain. Bilateral perisylvian PMG (BPP) often is accompanied by mild mental retardation, epilepsy, and pseudobulbar palsy, and this results in problems with expressive speech and feeding.¹

Bilateral periventricular nodular heterotopia (BPNH) is a neuronal migration disorder, in which neurons that fail to migrate into the developing cortex remain on the ventricular surface and form nodules that line the lateral ventricles.² It can be inherited as an X linked dominant trait.³ Female patients with BPNH are of normal intelligence, have seizures, and may have complications in the vascular system, including patent ductus arteriosus and coagulopathy. Few male patients with BPNH have been reported^4,5; however, most male fetuses with . . . [Full text of this article]

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