LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
Piernanda ViglianoLaura Jarre

Abstract

Merosin-deficient congenital muscular dystrophy (MD) type 1A (MDC1A) is one of the most frequent forms of CMD in Western countries. The classical form, characterized by a total lack of laminin alpha2 chain expression, usually shows severe clinical features; cases with complete laminin alpha2 deficiency and mild phenotype have also been reported, although the mechanisms underlying the lack of genotype-phenotype correlation have not been elucidated. Epilepsy and focal cortical dysplasia-in addition to the classical diffuse white matter abnormalities-have been described in some of these patients associated with cognitive deterioration. We report on a patient with total laminin alpha2 deficiency due to a homozygous stop-codon mutation in the LAMA2 gene, with mild evolution. When 6.9 years old, she developed focal occipital seizures and absence-like status when awake, with probable relation to an extensive bilateral occipital micropolygyria. Soon afterwards she lost ambulation and developed cognitive deterioration. Our case confirms that the clinical spectrum of MDC1A is more heterogeneous than previously thought.

Associated Clinical Trials

References

Jan 1, 1997·Annals of Neurology·R GuerriniF Andermann
Sep 8, 2004·Neuromuscular Disorders : NMD·Francesco Muntoni, Thomas Voit

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Citations

Jul 22, 2010·Epilepsia·Alexander Dityatev
Mar 11, 2016·Journal of Pediatric Neurosciences·Faruk IncecikSakir Altunbasak
Dec 17, 2014·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Ana CamachoRogelio Simón
Aug 12, 2014·American Journal of Human Genetics·Kimberly A AldingerDan Doherty
Nov 17, 2010·Journal of Child Neurology·Ching H WangUNKNOWN International Standard of Care Committee for Congenital Muscular Dystrophy
Sep 2, 2015·Journal of Neuromuscular Diseases·Isabelle NelsonGisèle Bonne
Apr 9, 2020·Epilepsia·Daniel Natera-de BenitoVictoria San Antonio-Arce
Aug 23, 2020·Journal of Neuropathology and Experimental Neurology·Himali JayakodySteven A Moore
Aug 12, 2020·Brain : a Journal of Neurology·Mariasavina SeverinoAndrea Rossi
Aug 15, 2020·Frontiers in Molecular Neuroscience·Andrea J Arreguin, Holly Colognato
Jul 30, 2021·Seizure : the Journal of the British Epilepsy Association·Andrea SalvatiFederico Sicca
Jul 21, 2021·Orphanet Journal of Rare Diseases·Dandan TanHui Xiong

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